Canonical Allele Identifier: CA6861538

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 498312
• ClinVar RCV Id: RCV000726817 ; RCV001085019 ; RCV001113217
• dbSNP Id: rs139785866
• ExAC: 12:124206965 G / T
• gnomAD v2: 12-124206965-G-T
• gnomAD v3: 12-123722418-G-T
• gnomAD v4: 12-123722418-G-T
• MyVariant Identifiers: chr12:g.124206965G>T (hg19) ; chr12:g.123722418G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123722418G>T , CM000674.2:g.123722418G>T	GRCh38
NC_000012.11:g.124206965G>T , CM000674.1:g.124206965G>T	GRCh37
NC_000012.10:g.122772918G>T	NCBI36
NG_012743.1:g.15101G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330342.8:c.264G>T MANE Select	ENSP00000332247.2:p.Ala88=
ENST00000540368.6:n.295G>T
ENST00000613625.5:c.264G>T	ENSP00000482236.1:p.Ala88=
ENST00000675344.1:c.264G>T	ENSP00000501953.1:p.Ala88=
ENST00000330342.7:c.264G>T	ENSP00000332247.2:p.Ala88=
ENST00000540368.5:n.474G>T
ENST00000613625.4:c.264G>T	ENSP00000482236.1:p.Ala88=
NM_012463.3:c.264G>T	NP_036595.2:p.Ala88=
XM_005253563.1:c.264G>T	XP_005253620.1:p.Ala88=
XR_429088.1:n.427G>T
XR_945477.1:n.1099+592C>A
XR_945478.1:n.1099+592C>A
XR_945479.1:n.1099+592C>A
XM_024448910.1:c.264G>T	XP_024304678.1:p.Ala88=
XR_945477.3:n.491+592C>A
XR_945478.3:n.491+592C>A
NM_012463.4:c.264G>T MANE Select	NP_036595.2:p.Ala88=