Canonical Allele Identifier: CA684686203

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1261729062
• gnomAD v3: 12-123743648-C-T
• gnomAD v4: 12-123743648-C-T
• MyVariant Identifiers: chr12:g.124228195C>T (hg19) ; chr12:g.123743648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123743648C>T , CM000674.2:g.123743648C>T	GRCh38
NC_000012.11:g.124228195C>T , CM000674.1:g.124228195C>T	GRCh37
NC_000012.10:g.122794148C>T	NCBI36
NG_012743.1:g.36331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1039-137C>T MANE Select	ENSP00000332247.2:n.1039-137C>T
ENST00000540368.6:n.1070-137C>T
ENST00000674794.1:c.1127-137C>T
ENST00000675260.1:n.177C>T
ENST00000675344.1:c.*60-137C>T	ENSP00000501953.1:n.*60-137C>T
ENST00000330342.7:c.1039-137C>T	ENSP00000332247.2:n.1039-137C>T
ENST00000504192.2:c.649-137C>T	ENSP00000443441.1:n.649-137C>T
ENST00000536426.1:n.56-137C>T
ENST00000545059.5:n.3675-137C>T
NM_012463.3:c.1039-137C>T	NP_036595.2:n.1039-137C>T
XM_005253563.1:c.1039-137C>T	XP_005253620.1:n.1039-137C>T
XM_006719317.2:c.526-137C>T	XP_006719380.1:n.526-137C>T
XM_006719318.2:c.217-137C>T	XP_006719381.1:n.217-137C>T
XR_429088.1:n.1202-137C>T
XM_024448910.1:c.1039-137C>T	XP_024304678.1:n.1039-137C>T
XM_024448911.1:c.526-137C>T	XP_024304679.1:n.526-137C>T
XM_024448912.1:c.217-137C>T	XP_024304680.1:n.217-137C>T
NM_012463.4:c.1039-137C>T MANE Select	NP_036595.2:n.1039-137C>T