Canonical Allele Identifier: CA6861832
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 432720
ClinVar RCV Id: RCV000498620
dbSNP Id: rs146967928

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123743815A>T , CM000674.2:g.123743815A>T GRCh38
NC_000012.11:g.124228362A>T , CM000674.1:g.124228362A>T GRCh37
NC_000012.10:g.122794315A>T NCBI36
NG_012743.1:g.36498A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000330342.8:c.1069A>T MANE Select ENSP00000332247.2:p.Met357Leu
ENST00000540368.6:n.1100A>T
ENST00000674794.1:n.1157A>T
ENST00000675260.1:n.344A>T
ENST00000675344.1:c.*90A>T ENSP00000501953.1:p.=
ENST00000330342.7:c.1069A>T ENSP00000332247.2:p.Met357Leu
ENST00000504192.2:c.679A>T ENSP00000443441.1:p.Met227Leu
ENST00000536426.1:n.86A>T
ENST00000545059.5:n.3705A>T
NM_012463.3:c.1069A>T NP_036595.2:p.Met357Leu
XM_005253563.1:c.1069A>T XP_005253620.1:p.Met357Leu
XM_006719317.2:c.556A>T XP_006719380.1:p.Met186Leu
XM_006719318.2:c.247A>T XP_006719381.1:p.Met83Leu
XR_429088.1:n.1232A>T
XM_024448910.1:c.1069A>T XP_024304678.1:p.Met357Leu
XM_024448911.1:c.556A>T XP_024304679.1:p.Met186Leu
XM_024448912.1:c.247A>T XP_024304680.1:p.Met83Leu
NM_012463.4:c.1069A>T MANE Select NP_036595.2:p.Met357Leu