Canonical Allele Identifier: CA6783811

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 379690
• ClinVar RCV Id: RCV000435648 ; RCV002061656 ; RCV002488901 ; RCV002259943 ; RCV002259944
• dbSNP Id: rs56253731
• ExAC: 12:110770386 C / T
• gnomAD v2: 12-110770386-C-T
• gnomAD v3: 12-110332581-C-T
• gnomAD v4: 12-110332581-C-T
• MyVariant Identifiers: chr12:g.110770386C>T (hg19) ; chr12:g.110332581C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110332581C>T , CM000674.2:g.110332581C>T	GRCh38
NC_000012.11:g.110770386C>T , CM000674.1:g.110770386C>T	GRCh37
NC_000012.10:g.109254769C>T	NCBI36
NG_007097.2:g.55955C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1096-16C>T MANE Select	ENSP00000440045.2:n.1096-16C>T
ENST00000308664.10:c.1096-16C>T	ENSP00000311186.6:n.1096-16C>T
ENST00000377685.9:c.*936-16C>T	ENSP00000366913.4:n.*936-16C>T
ENST00000539276.6:c.1096-16C>T	ENSP00000440045.2:n.1096-16C>T
ENST00000547050.1:n.1141-16C>T
ENST00000548169.2:c.767-16C>T
ENST00000550262.1:n.3183C>T
NM_001681.3:c.1096-16C>T	NP_001672.1:n.1096-16C>T
NM_170665.3:c.1096-16C>T	NP_733765.1:n.1096-16C>T
XM_005253888.1:c.1096-16C>T	XP_005253945.1:n.1096-16C>T
XM_011538402.1:c.1096-16C>T	XP_011536704.1:n.1096-16C>T
XM_011538403.1:c.1096-16C>T	XP_011536705.1:n.1096-16C>T
XR_243009.1:n.1102-16C>T
XM_005253888.3:c.1096-16C>T	XP_005253945.1:n.1096-16C>T
XM_011538402.3:c.1096-16C>T	XP_011536704.1:n.1096-16C>T
XR_002957329.1:n.1102-16C>T
XR_243009.3:n.1102-16C>T
NM_170665.4:c.1096-16C>T MANE Select	NP_733765.1:n.1096-16C>T
NM_001681.4:c.1096-16C>T	NP_001672.1:n.1096-16C>T