Canonical Allele Identifier: CA2068991700

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1956560278
• gnomAD v4: 12-123736979-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123736979C>T , CM000674.2:g.123736979C>T	GRCh38
NC_000012.11:g.124221526C>T , CM000674.1:g.124221526C>T	GRCh37
NC_000012.10:g.122787479C>T	NCBI36
NG_012743.1:g.29662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.826-80C>T MANE Select	ENSP00000332247.2:n.826-80C>T
ENST00000540368.6:n.857-80C>T
ENST00000613625.5:c.826-80C>T	ENSP00000482236.1:n.826-80C>T
ENST00000674794.1:c.914-80C>T
ENST00000675344.1:c.826-80C>T	ENSP00000501953.1:n.826-80C>T
ENST00000330342.7:c.826-80C>T	ENSP00000332247.2:n.826-80C>T
ENST00000504192.2:c.436-80C>T	ENSP00000443441.1:n.436-80C>T
ENST00000540368.5:n.1036-80C>T
ENST00000545059.5:n.3462-80C>T
ENST00000613625.4:c.826-80C>T	ENSP00000482236.1:n.826-80C>T
NM_012463.3:c.826-80C>T	NP_036595.2:n.826-80C>T
XM_005253563.1:c.826-80C>T	XP_005253620.1:n.826-80C>T
XM_006719317.2:c.313-80C>T	XP_006719380.1:n.313-80C>T
XM_006719318.2:c.4-80C>T	XP_006719381.1:n.4-80C>T
XR_429088.1:n.989-80C>T
XM_024448910.1:c.826-80C>T	XP_024304678.1:n.826-80C>T
XM_024448911.1:c.313-80C>T	XP_024304679.1:n.313-80C>T
XM_024448912.1:c.4-80C>T	XP_024304680.1:n.4-80C>T
NM_012463.4:c.826-80C>T MANE Select	NP_036595.2:n.826-80C>T