Canonical Allele Identifier: CA2621701924

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123751014-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751014G>T , CM000674.2:g.123751014G>T	GRCh38
NC_000012.11:g.124235561G>T , CM000674.1:g.124235561G>T	GRCh37
NC_000012.10:g.122801514G>T	NCBI36
NG_012743.1:g.43697G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1936-96G>T MANE Select	ENSP00000332247.2:n.1936-96G>T
ENST00000540368.6:n.1967-96G>T
ENST00000674794.1:c.2024-96G>T
ENST00000675260.1:n.1211-96G>T
ENST00000675344.1:c.*957-96G>T	ENSP00000501953.1:n.*957-96G>T
ENST00000330342.7:c.1936-96G>T	ENSP00000332247.2:n.1936-96G>T
ENST00000534943.5:c.-321G>T	ENSP00000443726.1:n.-321G>T
NM_012463.3:c.1936-96G>T	NP_036595.2:n.1936-96G>T
XM_005253563.1:c.1936-1269G>T	XP_005253620.1:n.1936-1269G>T
XM_006719317.2:c.1423-96G>T	XP_006719380.1:n.1423-96G>T
XM_006719318.2:c.1114-96G>T	XP_006719381.1:n.1114-96G>T
XR_429088.1:n.2099-96G>T
XM_024448910.1:c.1936-1269G>T	XP_024304678.1:n.1936-1269G>T
XM_024448911.1:c.1423-96G>T	XP_024304679.1:n.1423-96G>T
XM_024448912.1:c.1114-96G>T	XP_024304680.1:n.1114-96G>T
NM_012463.4:c.1936-96G>T MANE Select	NP_036595.2:n.1936-96G>T