Canonical Allele Identifier: CA387157291

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1956641651
• gnomAD v3: 12-123744610-T-A
• gnomAD v4: 12-123744610-T-A
• MyVariant Identifiers: chr12:g.124229157T>A (hg19) ; chr12:g.123744610T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744610T>A , CM000674.2:g.123744610T>A	GRCh38
NC_000012.11:g.124229157T>A , CM000674.1:g.124229157T>A	GRCh37
NC_000012.10:g.122795110T>A	NCBI36
NG_012743.1:g.37293T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1340T>A MANE Select	ENSP00000332247.2:p.Phe447Tyr
ENST00000540368.6:n.1371T>A
ENST00000674794.1:c.1428T>A
ENST00000675260.1:n.615T>A
ENST00000675344.1:c.*361T>A	ENSP00000501953.1:n.*361T>A
ENST00000330342.7:c.1340T>A	ENSP00000332247.2:p.Phe447Tyr
ENST00000504192.2:c.950T>A	ENSP00000443441.1:p.Phe317Tyr
ENST00000536426.1:n.357T>A
ENST00000545059.5:n.3976T>A
NM_012463.3:c.1340T>A	NP_036595.2:p.Phe447Tyr
XM_005253563.1:c.1340T>A	XP_005253620.1:p.Phe447Tyr
XM_006719317.2:c.827T>A	XP_006719380.1:p.Phe276Tyr
XM_006719318.2:c.518T>A	XP_006719381.1:p.Phe173Tyr
XR_429088.1:n.1503T>A
XM_024448910.1:c.1340T>A	XP_024304678.1:p.Phe447Tyr
XM_024448911.1:c.827T>A	XP_024304679.1:p.Phe276Tyr
XM_024448912.1:c.518T>A	XP_024304680.1:p.Phe173Tyr
NM_012463.4:c.1340T>A MANE Select	NP_036595.2:p.Phe447Tyr