Canonical Allele Identifier: CA386676106

Gene: ATP2A2

Linked Data

• MyVariant Identifiers: chr12:g.110781135T>G (hg19) ; chr12:g.110343330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110343330T>G , CM000674.2:g.110343330T>G	GRCh38
NC_000012.11:g.110781135T>G , CM000674.1:g.110781135T>G	GRCh37
NC_000012.10:g.109265518T>G	NCBI36
NG_007097.2:g.66704T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2417T>G MANE Select	ENSP00000440045.2:p.Leu806Arg
ENST00000308664.10:c.2417T>G	ENSP00000311186.6:p.Leu806Arg
ENST00000377685.9:c.*2257T>G	ENSP00000366913.4:n.*2257T>G
ENST00000539276.6:c.2417T>G	ENSP00000440045.2:p.Leu806Arg
ENST00000547792.1:n.75T>G
ENST00000548169.2:c.2088T>G
NM_001681.3:c.2417T>G	NP_001672.1:p.Leu806Arg
NM_170665.3:c.2417T>G	NP_733765.1:p.Leu806Arg
XM_005253888.1:c.2417T>G	XP_005253945.1:p.Leu806Arg
XM_011538402.1:c.2417T>G	XP_011536704.1:p.Leu806Arg
XM_011538403.1:c.2417T>G	XP_011536705.1:p.Leu806Arg
XR_243009.1:n.2423T>G
XM_005253888.3:c.2417T>G	XP_005253945.1:p.Leu806Arg
XM_011538402.3:c.2417T>G	XP_011536704.1:p.Leu806Arg
XR_002957329.1:n.2423T>G
XR_243009.3:n.2423T>G
NM_170665.4:c.2417T>G MANE Select	NP_733765.1:p.Leu806Arg
NM_001681.4:c.2417T>G	NP_001672.1:p.Leu806Arg