Canonical Allele Identifier: CA386674671
Gene: ATP2A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110340713G>T , CM000674.2:g.110340713G>T GRCh38
NC_000012.11:g.110778518G>T , CM000674.1:g.110778518G>T GRCh37
NC_000012.10:g.109262901G>T NCBI36
NG_007097.2:g.64087G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.1816G>T MANE Select ENSP00000440045.2:p.Val606Leu
ENST00000308664.10:c.1816G>T ENSP00000311186.6:p.Val606Leu
ENST00000377685.9:c.*1656G>T ENSP00000366913.4:n.*1656G>T
ENST00000539276.6:c.1816G>T ENSP00000440045.2:p.Val606Leu
ENST00000548169.2:c.1487G>T
NM_001681.3:c.1816G>T NP_001672.1:p.Val606Leu
NM_170665.3:c.1816G>T NP_733765.1:p.Val606Leu
XM_005253888.1:c.1816G>T XP_005253945.1:p.Val606Leu
XM_011538402.1:c.1816G>T XP_011536704.1:p.Val606Leu
XM_011538403.1:c.1816G>T XP_011536705.1:p.Val606Leu
XR_243009.1:n.1822G>T
XM_005253888.3:c.1816G>T XP_005253945.1:p.Val606Leu
XM_011538402.3:c.1816G>T XP_011536704.1:p.Val606Leu
XR_002957329.1:n.1822G>T
XR_243009.3:n.1822G>T
NM_170665.4:c.1816G>T MANE Select NP_733765.1:p.Val606Leu
NM_001681.4:c.1816G>T NP_001672.1:p.Val606Leu