Canonical Allele Identifier: CA481733729
Gene: ATP2A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.110778601C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110340796C>G , CM000674.2:g.110340796C>G GRCh38
NC_000012.11:g.110778601C>G , CM000674.1:g.110778601C>G GRCh37
NC_000012.10:g.109262984C>G NCBI36
NG_007097.2:g.64170C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000539276.7:c.1899C>G MANE Select ENSP00000440045.2:p.Ala633=
ENST00000308664.10:c.1899C>G ENSP00000311186.6:p.Ala633=
ENST00000377685.9:c.*1739C>G ENSP00000366913.4:n.*1739C>G
ENST00000539276.6:c.1899C>G ENSP00000440045.2:p.Ala633=
ENST00000548169.2:c.1570C>G
NM_001681.3:c.1899C>G NP_001672.1:p.Ala633=
NM_170665.3:c.1899C>G NP_733765.1:p.Ala633=
XM_005253888.1:c.1899C>G XP_005253945.1:p.Ala633=
XM_011538402.1:c.1899C>G XP_011536704.1:p.Ala633=
XM_011538403.1:c.1899C>G XP_011536705.1:p.Ala633=
XR_243009.1:n.1905C>G
XM_005253888.3:c.1899C>G XP_005253945.1:p.Ala633=
XM_011538402.3:c.1899C>G XP_011536704.1:p.Ala633=
XR_002957329.1:n.1905C>G
XR_243009.3:n.1905C>G
NM_170665.4:c.1899C>G MANE Select NP_733765.1:p.Ala633=
NM_001681.4:c.1899C>G NP_001672.1:p.Ala633=