Canonical Allele Identifier: CA386675286
Gene: ATP2A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110340953A>C , CM000674.2:g.110340953A>C GRCh38
NC_000012.11:g.110778758A>C , CM000674.1:g.110778758A>C GRCh37
NC_000012.10:g.109263141A>C NCBI36
NG_007097.2:g.64327A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.2056A>C MANE Select ENSP00000440045.2:p.Ile686Leu
ENST00000308664.10:c.2056A>C ENSP00000311186.6:p.Ile686Leu
ENST00000377685.9:c.*1896A>C ENSP00000366913.4:n.*1896A>C
ENST00000539276.6:c.2056A>C ENSP00000440045.2:p.Ile686Leu
ENST00000548169.2:c.1727A>C
NM_001681.3:c.2056A>C NP_001672.1:p.Ile686Leu
NM_170665.3:c.2056A>C NP_733765.1:p.Ile686Leu
XM_005253888.1:c.2056A>C XP_005253945.1:p.Ile686Leu
XM_011538402.1:c.2056A>C XP_011536704.1:p.Ile686Leu
XM_011538403.1:c.2056A>C XP_011536705.1:p.Ile686Leu
XR_243009.1:n.2062A>C
XM_005253888.3:c.2056A>C XP_005253945.1:p.Ile686Leu
XM_011538402.3:c.2056A>C XP_011536704.1:p.Ile686Leu
XR_002957329.1:n.2062A>C
XR_243009.3:n.2062A>C
NM_170665.4:c.2056A>C MANE Select NP_733765.1:p.Ile686Leu
NM_001681.4:c.2056A>C NP_001672.1:p.Ile686Leu