Canonical Allele Identifier: CA245194770

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs746608946
• gnomAD v2: 12-124220181-C-T
• gnomAD v4: 12-123735634-C-T
• MyVariant Identifiers: chr12:g.124220181C>T (hg19) ; chr12:g.123735634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123735634C>T , CM000674.2:g.123735634C>T	GRCh38
NC_000012.11:g.124220181C>T , CM000674.1:g.124220181C>T	GRCh37
NC_000012.10:g.122786134C>T	NCBI36
NG_012743.1:g.28317C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.825+10C>T MANE Select	ENSP00000332247.2:n.825+10C>T
ENST00000540368.6:n.856+10C>T
ENST00000613625.5:c.825+10C>T	ENSP00000482236.1:n.825+10C>T
ENST00000674794.1:c.265+10C>T
ENST00000675344.1:c.825+10C>T	ENSP00000501953.1:n.825+10C>T
ENST00000330342.7:c.825+10C>T	ENSP00000332247.2:n.825+10C>T
ENST00000504192.2:c.435+10C>T	ENSP00000443441.1:n.435+10C>T
ENST00000540368.5:n.1035+10C>T
ENST00000545059.5:n.3461+10C>T
ENST00000613625.4:c.825+10C>T	ENSP00000482236.1:n.825+10C>T
NM_012463.3:c.825+10C>T	NP_036595.2:n.825+10C>T
XM_005253563.1:c.825+10C>T	XP_005253620.1:n.825+10C>T
XM_006719317.2:c.312+10C>T	XP_006719380.1:n.312+10C>T
XR_429088.1:n.988+10C>T
XM_024448910.1:c.825+10C>T	XP_024304678.1:n.825+10C>T
XM_024448911.1:c.312+10C>T	XP_024304679.1:n.312+10C>T
NM_012463.4:c.825+10C>T MANE Select	NP_036595.2:n.825+10C>T