Canonical Allele Identifier: CA386676345

Gene: ATP2A2

Linked Data

• MyVariant Identifiers: chr12:g.110781229G>C (hg19) ; chr12:g.110343424G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343424G>C , CM000674.2:g.110343424G>C	GRCh38
NC_000012.11:g.110781229G>C , CM000674.1:g.110781229G>C	GRCh37
NC_000012.10:g.109265612G>C	NCBI36
NG_007097.2:g.66798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2511G>C MANE Select	ENSP00000440045.2:p.Leu837Phe
ENST00000308664.10:c.2511G>C	ENSP00000311186.6:p.Leu837Phe
ENST00000377685.9:c.*2351G>C	ENSP00000366913.4:n.*2351G>C
ENST00000539276.6:c.2511G>C	ENSP00000440045.2:p.Leu837Phe
ENST00000547792.1:n.169G>C
ENST00000548169.2:c.2182G>C
NM_001681.3:c.2511G>C	NP_001672.1:p.Leu837Phe
NM_170665.3:c.2511G>C	NP_733765.1:p.Leu837Phe
XM_005253888.1:c.2511G>C	XP_005253945.1:p.Leu837Phe
XM_011538402.1:c.2511G>C	XP_011536704.1:p.Leu837Phe
XM_011538403.1:c.2511G>C	XP_011536705.1:p.Leu837Phe
XR_243009.1:n.2517G>C
XM_005253888.3:c.2511G>C	XP_005253945.1:p.Leu837Phe
XM_011538402.3:c.2511G>C	XP_011536704.1:p.Leu837Phe
XR_002957329.1:n.2517G>C
XR_243009.3:n.2517G>C
NM_170665.4:c.2511G>C MANE Select	NP_733765.1:p.Leu837Phe
NM_001681.4:c.2511G>C	NP_001672.1:p.Leu837Phe