Canonical Allele Identifier: CA245200688

Gene: ATP6V0A2

Linked Data

• ClinVar Variation Id: 1934084
• ClinVar RCV Id: RCV002631668
• dbSNP Id: rs940156413
• gnomAD v4: 12-123744640-T-C
• MyVariant Identifiers: chr12:g.124229187T>C (hg19) ; chr12:g.123744640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123744640T>C , CM000674.2:g.123744640T>C	GRCh38
NC_000012.11:g.124229187T>C , CM000674.1:g.124229187T>C	GRCh37
NC_000012.10:g.122795140T>C	NCBI36
NG_012743.1:g.37323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330342.8:c.1370T>C MANE Select	ENSP00000332247.2:p.Met457Thr
ENST00000540368.6:n.1401T>C
ENST00000674794.1:c.1458T>C
ENST00000675260.1:n.645T>C
ENST00000675344.1:c.*391T>C	ENSP00000501953.1:n.*391T>C
ENST00000330342.7:c.1370T>C	ENSP00000332247.2:p.Met457Thr
ENST00000504192.2:c.980T>C	ENSP00000443441.1:p.Met327Thr
ENST00000536426.1:n.387T>C
ENST00000545059.5:n.4006T>C
NM_012463.3:c.1370T>C	NP_036595.2:p.Met457Thr
XM_005253563.1:c.1370T>C	XP_005253620.1:p.Met457Thr
XM_006719317.2:c.857T>C	XP_006719380.1:p.Met286Thr
XM_006719318.2:c.548T>C	XP_006719381.1:p.Met183Thr
XR_429088.1:n.1533T>C
XM_024448910.1:c.1370T>C	XP_024304678.1:p.Met457Thr
XM_024448911.1:c.857T>C	XP_024304679.1:p.Met286Thr
XM_024448912.1:c.548T>C	XP_024304680.1:p.Met183Thr
NM_012463.4:c.1370T>C MANE Select	NP_036595.2:p.Met457Thr