Canonical Allele Identifier: CA127423

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 17797
• ClinVar RCV Id: RCV000019375
• dbSNP Id: rs121912735
• MyVariant Identifiers: chr12:g.110783128C>A (hg19) ; chr12:g.110345323C>A (hg38)
• PubMed: PMID:11121153

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345323C>A , CM000674.2:g.110345323C>A	GRCh38
NC_000012.11:g.110783128C>A , CM000674.1:g.110783128C>A	GRCh37
NC_000012.10:g.109267511C>A	NCBI36
NG_007097.2:g.68697C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539276.7:c.2682C>A MANE Select	ENSP00000440045.2:p.Tyr894Ter
ENST00000308664.10:c.2682C>A	ENSP00000311186.6:p.Tyr894Ter
ENST00000377685.9:c.*2522C>A	ENSP00000366913.4:n.*2522C>A
ENST00000539276.6:c.2682C>A	ENSP00000440045.2:p.Tyr894Ter
ENST00000548169.2:c.2353C>A
NM_001681.3:c.2682C>A	NP_001672.1:p.Tyr894Ter
NM_170665.3:c.2682C>A	NP_733765.1:p.Tyr894Ter
XM_005253888.1:c.2682C>A	XP_005253945.1:p.Tyr894Ter
XM_011538402.1:c.2682C>A	XP_011536704.1:p.Tyr894Ter
XR_243009.1:n.2688C>A
XM_005253888.3:c.2682C>A	XP_005253945.1:p.Tyr894Ter
XM_011538402.3:c.2682C>A	XP_011536704.1:p.Tyr894Ter
XR_002957329.1:n.2688C>A
XR_243009.3:n.2688C>A
NM_170665.4:c.2682C>A MANE Select	NP_733765.1:p.Tyr894Ter
NM_001681.4:c.2682C>A	NP_001672.1:p.Tyr894Ter