Canonical Allele Identifier: CA10632034

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 307155
• ClinVar RCV Id: RCV000283425
• dbSNP Id: rs886048947
• gnomAD v4: 12-110281623-C-T
• MyVariant Identifiers: chr12:g.110719428C>T (hg19) ; chr12:g.110281623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110281623C>T , CM000674.2:g.110281623C>T	GRCh38
NC_000012.11:g.110719428C>T , CM000674.1:g.110719428C>T	GRCh37
NC_000012.10:g.109203811C>T	NCBI36
NG_007097.2:g.4997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552636.2:c.-258+659C>T	ENSP00000447406.2:n.-258+659C>T
ENST00000539276.7:c.-167C>T MANE Select	ENSP00000440045.2:n.-167C>T
ENST00000308664.10:c.-167C>T	ENSP00000311186.6:n.-167C>T
ENST00000377685.9:c.-167C>T	ENSP00000366913.4:n.-167C>T
ENST00000552636.1:c.-184+659C>T	ENSP00000447406.1:n.-184+659C>T
NM_001681.3:c.-167C>T	NP_001672.1:n.-167C>T
NM_170665.3:c.-167C>T	NP_733765.1:n.-167C>T
NM_170665.4:c.-167C>T MANE Select	NP_733765.1:n.-167C>T
NM_001681.4:c.-167C>T	NP_001672.1:n.-167C>T