Canonical Allele Identifier: CA607602405

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1487771761
• gnomAD v2: 12-110777625-CAAGA-C
• gnomAD v3: 12-110339820-CAAGA-C
• gnomAD v4: 12-110339820-CAAGA-C
• MyVariant Identifiers: chr12:g.110777626_110777629del (hg19) ; chr12:g.110339821_110339824del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339825_110339828del , CM000674.2:g.110339825_110339828del	GRCh38
NC_000012.11:g.110777630_110777633del , CM000674.1:g.110777630_110777633del	GRCh37
NC_000012.10:g.109262013_109262016del	NCBI36
NG_007097.2:g.63199_63202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1761+104_1761+107del MANE Select	ENSP00000440045.2:n.1761+104_1761+107del
ENST00000308664.10:c.1761+104_1761+107del	ENSP00000311186.6:n.1761+104_1761+107del
ENST00000377685.9:c.*1601+104_*1601+107del	ENSP00000366913.4:n.*1601+104_*1601+107del
ENST00000539276.6:c.1761+104_1761+107del	ENSP00000440045.2:n.1761+104_1761+107del
ENST00000548169.2:c.1432+104_1432+107del
NM_001681.3:c.1761+104_1761+107del	NP_001672.1:n.1761+104_1761+107del
NM_170665.3:c.1761+104_1761+107del	NP_733765.1:n.1761+104_1761+107del
XM_005253888.1:c.1761+104_1761+107del	XP_005253945.1:n.1761+104_1761+107del
XM_011538402.1:c.1761+104_1761+107del	XP_011536704.1:n.1761+104_1761+107del
XM_011538403.1:c.1761+104_1761+107del	XP_011536705.1:n.1761+104_1761+107del
XR_243009.1:n.1767+104_1767+107del
XM_005253888.3:c.1761+104_1761+107del	XP_005253945.1:n.1761+104_1761+107del
XM_011538402.3:c.1761+104_1761+107del	XP_011536704.1:n.1761+104_1761+107del
XR_002957329.1:n.1767+104_1767+107del
XR_243009.3:n.1767+104_1767+107del
NM_170665.4:c.1761+104_1761+107del MANE Select	NP_733765.1:n.1761+104_1761+107del
NM_001681.4:c.1761+104_1761+107del	NP_001672.1:n.1761+104_1761+107del