Canonical Allele Identifier: CA6861919

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs754250689
• ExAC: 12:124229203 G / T
• gnomAD v2: 12-124229203-G-T
• gnomAD v3: 12-123744656-G-T
• gnomAD v4: 12-123744656-G-T
• MyVariant Identifiers: chr12:g.124229203G>T (hg19) ; chr12:g.123744656G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744656G>T , CM000674.2:g.123744656G>T	GRCh38
NC_000012.11:g.124229203G>T , CM000674.1:g.124229203G>T	GRCh37
NC_000012.10:g.122795156G>T	NCBI36
NG_012743.1:g.37339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1386G>T MANE Select	ENSP00000332247.2:p.Val462=
ENST00000540368.6:n.1417G>T
ENST00000674794.1:c.1474G>T
ENST00000675260.1:n.661G>T
ENST00000675344.1:c.*407G>T	ENSP00000501953.1:n.*407G>T
ENST00000330342.7:c.1386G>T	ENSP00000332247.2:p.Val462=
ENST00000536426.1:n.403G>T
ENST00000545059.5:n.4022G>T
NM_012463.3:c.1386G>T	NP_036595.2:p.Val462=
XM_005253563.1:c.1386G>T	XP_005253620.1:p.Val462=
XM_006719317.2:c.873G>T	XP_006719380.1:p.Val291=
XM_006719318.2:c.564G>T	XP_006719381.1:p.Val188=
XR_429088.1:n.1549G>T
XM_024448910.1:c.1386G>T	XP_024304678.1:p.Val462=
XM_024448911.1:c.873G>T	XP_024304679.1:p.Val291=
XM_024448912.1:c.564G>T	XP_024304680.1:p.Val188=
NM_012463.4:c.1386G>T MANE Select	NP_036595.2:p.Val462=