Canonical Allele Identifier: CA245204035

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs547747434
• gnomAD v3: 12-123751013-A-G
• gnomAD v4: 12-123751013-A-G
• MyVariant Identifiers: chr12:g.124235560A>G (hg19) ; chr12:g.123751013A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123751013A>G , CM000674.2:g.123751013A>G	GRCh38
NC_000012.11:g.124235560A>G , CM000674.1:g.124235560A>G	GRCh37
NC_000012.10:g.122801513A>G	NCBI36
NG_012743.1:g.43696A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.1936-97A>G MANE Select	ENSP00000332247.2:n.1936-97A>G
ENST00000540368.6:n.1967-97A>G
ENST00000674794.1:c.2024-97A>G
ENST00000675260.1:n.1211-97A>G
ENST00000675344.1:c.*957-97A>G	ENSP00000501953.1:n.*957-97A>G
ENST00000330342.7:c.1936-97A>G	ENSP00000332247.2:n.1936-97A>G
ENST00000534943.5:c.-322A>G	ENSP00000443726.1:n.-322A>G
NM_012463.3:c.1936-97A>G	NP_036595.2:n.1936-97A>G
XM_005253563.1:c.1936-1270A>G	XP_005253620.1:n.1936-1270A>G
XM_006719317.2:c.1423-97A>G	XP_006719380.1:n.1423-97A>G
XM_006719318.2:c.1114-97A>G	XP_006719381.1:n.1114-97A>G
XR_429088.1:n.2099-97A>G
XM_024448910.1:c.1936-1270A>G	XP_024304678.1:n.1936-1270A>G
XM_024448911.1:c.1423-97A>G	XP_024304679.1:n.1423-97A>G
XM_024448912.1:c.1114-97A>G	XP_024304680.1:n.1114-97A>G
NM_012463.4:c.1936-97A>G MANE Select	NP_036595.2:n.1936-97A>G