Canonical Allele Identifier: CA387153821

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123735535-C-T
• MyVariant Identifiers: chr12:g.124220082C>T (hg19) ; chr12:g.123735535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735535C>T , CM000674.2:g.123735535C>T	GRCh38
NC_000012.11:g.124220082C>T , CM000674.1:g.124220082C>T	GRCh37
NC_000012.10:g.122786035C>T	NCBI36
NG_012743.1:g.28218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.736C>T MANE Select	ENSP00000332247.2:p.His246Tyr
ENST00000540368.6:n.767C>T
ENST00000613625.5:c.736C>T	ENSP00000482236.1:p.His246Tyr
ENST00000674794.1:c.176C>T
ENST00000675344.1:c.736C>T	ENSP00000501953.1:p.His246Tyr
ENST00000330342.7:c.736C>T	ENSP00000332247.2:p.His246Tyr
ENST00000504192.2:c.346C>T	ENSP00000443441.1:p.His116Tyr
ENST00000540368.5:n.946C>T
ENST00000545059.5:n.3372C>T
ENST00000613625.4:c.736C>T	ENSP00000482236.1:p.His246Tyr
NM_012463.3:c.736C>T	NP_036595.2:p.His246Tyr
XM_005253563.1:c.736C>T	XP_005253620.1:p.His246Tyr
XM_006719317.2:c.223C>T	XP_006719380.1:p.His75Tyr
XR_429088.1:n.899C>T
XM_024448910.1:c.736C>T	XP_024304678.1:p.His246Tyr
XM_024448911.1:c.223C>T	XP_024304679.1:p.His75Tyr
NM_012463.4:c.736C>T MANE Select	NP_036595.2:p.His246Tyr