Canonical Allele Identifier: CA6783649

Gene: ATP2A2

Linked Data

• ClinVar Variation Id: 377532
• ClinVar RCV Id: RCV000420970 ; RCV002259941 ; RCV002061339 ; RCV002259942
• dbSNP Id: rs35235621
• ExAC: 12:110729807 G / A
• gnomAD v2: 12-110729807-G-A
• gnomAD v3: 12-110292002-G-A
• gnomAD v4: 12-110292002-G-A
• MyVariant Identifiers: chr12:g.110729807G>A (hg19) ; chr12:g.110292002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110292002G>A , CM000674.2:g.110292002G>A	GRCh38
NC_000012.11:g.110729807G>A , CM000674.1:g.110729807G>A	GRCh37
NC_000012.10:g.109214190G>A	NCBI36
NG_007097.2:g.15376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000552636.2:c.-156-18G>A	ENSP00000447406.2:n.-156-18G>A
ENST00000539276.7:c.220-18G>A MANE Select	ENSP00000440045.2:n.220-18G>A
ENST00000308664.10:c.220-18G>A	ENSP00000311186.6:n.220-18G>A
ENST00000377685.9:c.*60-18G>A	ENSP00000366913.4:n.*60-18G>A
ENST00000539276.6:c.220-18G>A	ENSP00000440045.2:n.220-18G>A
ENST00000552636.1:c.-82-18G>A	ENSP00000447406.1:n.-82-18G>A
NM_001681.3:c.220-18G>A	NP_001672.1:n.220-18G>A
NM_170665.3:c.220-18G>A	NP_733765.1:n.220-18G>A
XM_005253888.1:c.220-18G>A	XP_005253945.1:n.220-18G>A
XM_011538402.1:c.220-18G>A	XP_011536704.1:n.220-18G>A
XM_011538403.1:c.220-18G>A	XP_011536705.1:n.220-18G>A
XR_243009.1:n.226-18G>A
XM_005253888.3:c.220-18G>A	XP_005253945.1:n.220-18G>A
XM_011538402.3:c.220-18G>A	XP_011536704.1:n.220-18G>A
XR_002957329.1:n.226-18G>A
XR_243009.3:n.226-18G>A
NM_170665.4:c.220-18G>A MANE Select	NP_733765.1:n.220-18G>A
NM_001681.4:c.220-18G>A	NP_001672.1:n.220-18G>A