Canonical Allele Identifier: CA6861848

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs764031063
• ExAC: 12:124228410 A / G
• gnomAD v2: 12-124228410-A-G
• gnomAD v4: 12-123743863-A-G
• MyVariant Identifiers: chr12:g.124228410A>G (hg19) ; chr12:g.123743863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743863A>G , CM000674.2:g.123743863A>G	GRCh38
NC_000012.11:g.124228410A>G , CM000674.1:g.124228410A>G	GRCh37
NC_000012.10:g.122794363A>G	NCBI36
NG_012743.1:g.36546A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1117A>G MANE Select	ENSP00000332247.2:p.Asn373Asp
ENST00000540368.6:n.1148A>G
ENST00000674794.1:c.1205A>G
ENST00000675260.1:n.392A>G
ENST00000675344.1:c.*138A>G	ENSP00000501953.1:n.*138A>G
ENST00000330342.7:c.1117A>G	ENSP00000332247.2:p.Asn373Asp
ENST00000504192.2:c.727A>G	ENSP00000443441.1:p.Asn243Asp
ENST00000536426.1:n.134A>G
ENST00000545059.5:n.3753A>G
NM_012463.3:c.1117A>G	NP_036595.2:p.Asn373Asp
XM_005253563.1:c.1117A>G	XP_005253620.1:p.Asn373Asp
XM_006719317.2:c.604A>G	XP_006719380.1:p.Asn202Asp
XM_006719318.2:c.295A>G	XP_006719381.1:p.Asn99Asp
XR_429088.1:n.1280A>G
XM_024448910.1:c.1117A>G	XP_024304678.1:p.Asn373Asp
XM_024448911.1:c.604A>G	XP_024304679.1:p.Asn202Asp
XM_024448912.1:c.295A>G	XP_024304680.1:p.Asn99Asp
NM_012463.4:c.1117A>G MANE Select	NP_036595.2:p.Asn373Asp