Canonical Allele Identifier: CA6861863
Gene: ATP6V0A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 391189
dbSNP Id: rs377235629

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.123743947G>T , CM000674.2:g.123743947G>T GRCh38
NC_000012.11:g.124228494G>T , CM000674.1:g.124228494G>T GRCh37
NC_000012.10:g.122794447G>T NCBI36
NG_012743.1:g.36630G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330342.8:c.1189+12G>T MANE Select ENSP00000332247.2:n.1189+12G>T
ENST00000540368.6:n.1220+12G>T
ENST00000674794.1:c.1277+12G>T
ENST00000675260.1:n.464+12G>T
ENST00000675344.1:c.*210+12G>T ENSP00000501953.1:n.*210+12G>T
ENST00000330342.7:c.1189+12G>T ENSP00000332247.2:n.1189+12G>T
ENST00000504192.2:c.799+12G>T ENSP00000443441.1:n.799+12G>T
ENST00000536426.1:n.206+12G>T
ENST00000545059.5:n.3825+12G>T
NM_012463.3:c.1189+12G>T NP_036595.2:n.1189+12G>T
XM_005253563.1:c.1189+12G>T XP_005253620.1:n.1189+12G>T
XM_006719317.2:c.676+12G>T XP_006719380.1:n.676+12G>T
XM_006719318.2:c.367+12G>T XP_006719381.1:n.367+12G>T
XR_429088.1:n.1352+12G>T
XM_024448910.1:c.1189+12G>T XP_024304678.1:n.1189+12G>T
XM_024448911.1:c.676+12G>T XP_024304679.1:n.676+12G>T
XM_024448912.1:c.367+12G>T XP_024304680.1:n.367+12G>T
NM_012463.4:c.1189+12G>T MANE Select NP_036595.2:n.1189+12G>T