Canonical Allele Identifier: CA2797436528

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110345092G>C , CM000674.2:g.110345092G>C	GRCh38
NC_000012.11:g.110782897G>C , CM000674.1:g.110782897G>C	GRCh37
NC_000012.10:g.109267280G>C	NCBI36
NG_007097.2:g.68466G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2607+121G>C MANE Select	ENSP00000440045.2:n.2607+121G>C
ENST00000308664.10:c.2607+121G>C	ENSP00000311186.6:n.2607+121G>C
ENST00000377685.9:c.*2447+121G>C	ENSP00000366913.4:n.*2447+121G>C
ENST00000539276.6:c.2607+121G>C	ENSP00000440045.2:n.2607+121G>C
ENST00000547792.1:n.386G>C
ENST00000548169.2:c.2278+121G>C
NM_001681.3:c.2607+121G>C	NP_001672.1:n.2607+121G>C
NM_170665.3:c.2607+121G>C	NP_733765.1:n.2607+121G>C
XM_005253888.1:c.2607+121G>C	XP_005253945.1:n.2607+121G>C
XM_011538402.1:c.2607+121G>C	XP_011536704.1:n.2607+121G>C
XR_243009.1:n.2613+121G>C
XM_005253888.3:c.2607+121G>C	XP_005253945.1:n.2607+121G>C
XM_011538402.3:c.2607+121G>C	XP_011536704.1:n.2607+121G>C
XR_002957329.1:n.2613+121G>C
XR_243009.3:n.2613+121G>C
NM_170665.4:c.2607+121G>C MANE Select	NP_733765.1:n.2607+121G>C
NM_001681.4:c.2607+121G>C	NP_001672.1:n.2607+121G>C