Canonical Allele Identifier: CA2621697423

Gene: ATP6V0A2

Linked Data

• gnomAD v4: 12-123724815-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123724816dup , CM000674.2:g.123724816dup	GRCh38
NC_000012.11:g.124209363dup , CM000674.1:g.124209363dup	GRCh37
NC_000012.10:g.122775316dup	NCBI36
NG_012743.1:g.17499dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.432+25dup MANE Select	ENSP00000332247.2:n.432+25dup
ENST00000540368.6:n.463+25dup
ENST00000613625.5:c.432+25dup	ENSP00000482236.1:n.432+25dup
ENST00000675344.1:c.432+25dup	ENSP00000501953.1:n.432+25dup
ENST00000330342.7:c.432+25dup	ENSP00000332247.2:n.432+25dup
ENST00000504192.2:c.42+25dup	ENSP00000443441.1:n.42+25dup
ENST00000540368.5:n.642+25dup
ENST00000613625.4:c.432+25dup	ENSP00000482236.1:n.432+25dup
NM_012463.3:c.432+25dup	NP_036595.2:n.432+25dup
XM_005253563.1:c.432+25dup	XP_005253620.1:n.432+25dup
XM_006719317.2:c.8+25dup	XP_006719380.1:n.8+25dup
XR_429088.1:n.595+25dup
XM_024448910.1:c.432+25dup	XP_024304678.1:n.432+25dup
XM_024448911.1:c.8+25dup	XP_024304679.1:n.8+25dup
NM_012463.4:c.432+25dup MANE Select	NP_036595.2:n.432+25dup