Canonical Allele Identifier: CA482270994

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1279080917
• gnomAD v2: 12-124228872-T-C
• gnomAD v4: 12-123744325-T-C
• MyVariant Identifiers: chr12:g.124228872T>C (hg19) ; chr12:g.123744325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744325T>C , CM000674.2:g.123744325T>C	GRCh38
NC_000012.11:g.124228872T>C , CM000674.1:g.124228872T>C	GRCh37
NC_000012.10:g.122794825T>C	NCBI36
NG_012743.1:g.37008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1314T>C MANE Select	ENSP00000332247.2:p.Asn438=
ENST00000540368.6:n.1345T>C
ENST00000674794.1:c.1402T>C
ENST00000675260.1:n.589T>C
ENST00000675344.1:c.*335T>C	ENSP00000501953.1:n.*335T>C
ENST00000330342.7:c.1314T>C	ENSP00000332247.2:p.Asn438=
ENST00000504192.2:c.924T>C	ENSP00000443441.1:p.Asn308=
ENST00000536426.1:n.331T>C
ENST00000545059.5:n.3950T>C
NM_012463.3:c.1314T>C	NP_036595.2:p.Asn438=
XM_005253563.1:c.1314T>C	XP_005253620.1:p.Asn438=
XM_006719317.2:c.801T>C	XP_006719380.1:p.Asn267=
XM_006719318.2:c.492T>C	XP_006719381.1:p.Asn164=
XR_429088.1:n.1477T>C
XM_024448910.1:c.1314T>C	XP_024304678.1:p.Asn438=
XM_024448911.1:c.801T>C	XP_024304679.1:p.Asn267=
XM_024448912.1:c.492T>C	XP_024304680.1:p.Asn164=
NM_012463.4:c.1314T>C MANE Select	NP_036595.2:p.Asn438=