Canonical Allele Identifier: CA387157546

Gene: ATP6V0A2

Linked Data

• dbSNP Id: rs1312882351
• gnomAD v2: 12-124229213-C-T
• gnomAD v4: 12-123744666-C-T
• MyVariant Identifiers: chr12:g.124229213C>T (hg19) ; chr12:g.123744666C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744666C>T , CM000674.2:g.123744666C>T	GRCh38
NC_000012.11:g.124229213C>T , CM000674.1:g.124229213C>T	GRCh37
NC_000012.10:g.122795166C>T	NCBI36
NG_012743.1:g.37349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1396C>T MANE Select	ENSP00000332247.2:p.Leu466Phe
ENST00000540368.6:n.1427C>T
ENST00000674794.1:c.1484C>T
ENST00000675260.1:n.671C>T
ENST00000675344.1:c.*417C>T	ENSP00000501953.1:n.*417C>T
ENST00000330342.7:c.1396C>T	ENSP00000332247.2:p.Leu466Phe
ENST00000536426.1:n.413C>T
ENST00000545059.5:n.4032C>T
NM_012463.3:c.1396C>T	NP_036595.2:p.Leu466Phe
XM_005253563.1:c.1396C>T	XP_005253620.1:p.Leu466Phe
XM_006719317.2:c.883C>T	XP_006719380.1:p.Leu295Phe
XM_006719318.2:c.574C>T	XP_006719381.1:p.Leu192Phe
XR_429088.1:n.1559C>T
XM_024448910.1:c.1396C>T	XP_024304678.1:p.Leu466Phe
XM_024448911.1:c.883C>T	XP_024304679.1:p.Leu295Phe
XM_024448912.1:c.574C>T	XP_024304680.1:p.Leu192Phe
NM_012463.4:c.1396C>T MANE Select	NP_036595.2:p.Leu466Phe