Canonical Allele Identifier: CA127417
Gene: ATP2A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17792
dbSNP Id: rs121912732

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110342430A>G , CM000674.2:g.110342430A>G GRCh38
NC_000012.11:g.110780235A>G , CM000674.1:g.110780235A>G GRCh37
NC_000012.10:g.109264618A>G NCBI36
NG_007097.2:g.65804A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000539276.7:c.2300A>G MANE Select ENSP00000440045.2:p.Asn767Ser
ENST00000308664.10:c.2300A>G ENSP00000311186.6:p.Asn767Ser
ENST00000377685.9:c.*2140A>G ENSP00000366913.4:n.*2140A>G
ENST00000539276.6:c.2300A>G ENSP00000440045.2:p.Asn767Ser
ENST00000548169.2:c.1971A>G
NM_001681.3:c.2300A>G NP_001672.1:p.Asn767Ser
NM_170665.3:c.2300A>G NP_733765.1:p.Asn767Ser
XM_005253888.1:c.2300A>G XP_005253945.1:p.Asn767Ser
XM_011538402.1:c.2300A>G XP_011536704.1:p.Asn767Ser
XM_011538403.1:c.2300A>G XP_011536705.1:p.Asn767Ser
XR_243009.1:n.2306A>G
XM_005253888.3:c.2300A>G XP_005253945.1:p.Asn767Ser
XM_011538402.3:c.2300A>G XP_011536704.1:p.Asn767Ser
XR_002957329.1:n.2306A>G
XR_243009.3:n.2306A>G
NM_170665.4:c.2300A>G MANE Select NP_733765.1:p.Asn767Ser
NM_001681.4:c.2300A>G NP_001672.1:p.Asn767Ser