Canonical Allele Identifier: CA386675200

Gene: ATP2A2

Linked Data

• dbSNP Id: rs780415691
• MyVariant Identifiers: chr12:g.110778720G>T (hg19) ; chr12:g.110340915G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110340915G>T , CM000674.2:g.110340915G>T	GRCh38
NC_000012.11:g.110778720G>T , CM000674.1:g.110778720G>T	GRCh37
NC_000012.10:g.109263103G>T	NCBI36
NG_007097.2:g.64289G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.2018G>T MANE Select	ENSP00000440045.2:p.Arg673Leu
ENST00000308664.10:c.2018G>T	ENSP00000311186.6:p.Arg673Leu
ENST00000377685.9:c.*1858G>T	ENSP00000366913.4:n.*1858G>T
ENST00000539276.6:c.2018G>T	ENSP00000440045.2:p.Arg673Leu
ENST00000548169.2:c.1689G>T
NM_001681.3:c.2018G>T	NP_001672.1:p.Arg673Leu
NM_170665.3:c.2018G>T	NP_733765.1:p.Arg673Leu
XM_005253888.1:c.2018G>T	XP_005253945.1:p.Arg673Leu
XM_011538402.1:c.2018G>T	XP_011536704.1:p.Arg673Leu
XM_011538403.1:c.2018G>T	XP_011536705.1:p.Arg673Leu
XR_243009.1:n.2024G>T
XM_005253888.3:c.2018G>T	XP_005253945.1:p.Arg673Leu
XM_011538402.3:c.2018G>T	XP_011536704.1:p.Arg673Leu
XR_002957329.1:n.2024G>T
XR_243009.3:n.2024G>T
NM_170665.4:c.2018G>T MANE Select	NP_733765.1:p.Arg673Leu
NM_001681.4:c.2018G>T	NP_001672.1:p.Arg673Leu