ClinVar

NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)

Gene:

ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

• ChrX: 15570351 (on Assembly GRCh38)
• ChrX: 15588474 (on Assembly GRCh37)

Preferred name:

NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)

HGVS:

• NC_000023.11:g.15570351C>A
• NG_012575.2:g.36808G>T
• NM_001371415.1:c.1840G>TMANE SELECT
• NM_001386259.1:c.1840G>T
• NM_001386260.1:c.1664+1850G>T
• NM_001388452.1:c.802G>T
• NM_001389402.1:c.1664+1850G>T
• NM_021804.3:c.1840G>T
• NP_001358344.1:p.Ala614Ser
• NP_001373188.1:p.Ala614Ser
• NP_001375381.1:p.Ala268Ser
• NP_068576.1:p.Ala614Ser
• NC_000023.10:g.15588474C>A
• NG_012575.1:g.36719G>T

This HGVS expression did not pass validation

Protein change:

A268S

Links:

dbSNP: rs201715513

NCBI 1000 Genomes Browser:

rs201715513

Molecular consequence:

• NM_001386260.1:c.1664+1850G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001389402.1:c.1664+1850G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371415.1:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001386259.1:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001388452.1:c.802G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_021804.3:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]