Canonical Allele Identifier: CA951764736

Gene: ATP2A2

Linked Data

• dbSNP Id: rs1879180021
• gnomAD v3: 12-110339825-AAG-A
• gnomAD v4: 12-110339825-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339828_110339829del , CM000674.2:g.110339828_110339829del	GRCh38
NC_000012.11:g.110777633_110777634del , CM000674.1:g.110777633_110777634del	GRCh37
NC_000012.10:g.109262016_109262017del	NCBI36
NG_007097.2:g.63202_63203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1761+107_1761+108del MANE Select	ENSP00000440045.2:n.1761+107_1761+108del
ENST00000308664.10:c.1761+107_1761+108del	ENSP00000311186.6:n.1761+107_1761+108del
ENST00000377685.9:c.*1601+107_*1601+108del	ENSP00000366913.4:n.*1601+107_*1601+108del
ENST00000539276.6:c.1761+107_1761+108del	ENSP00000440045.2:n.1761+107_1761+108del
ENST00000548169.2:c.1432+107_1432+108del
NM_001681.3:c.1761+107_1761+108del	NP_001672.1:n.1761+107_1761+108del
NM_170665.3:c.1761+107_1761+108del	NP_733765.1:n.1761+107_1761+108del
XM_005253888.1:c.1761+107_1761+108del	XP_005253945.1:n.1761+107_1761+108del
XM_011538402.1:c.1761+107_1761+108del	XP_011536704.1:n.1761+107_1761+108del
XM_011538403.1:c.1761+107_1761+108del	XP_011536705.1:n.1761+107_1761+108del
XR_243009.1:n.1767+107_1767+108del
XM_005253888.3:c.1761+107_1761+108del	XP_005253945.1:n.1761+107_1761+108del
XM_011538402.3:c.1761+107_1761+108del	XP_011536704.1:n.1761+107_1761+108del
XR_002957329.1:n.1767+107_1767+108del
XR_243009.3:n.1767+107_1767+108del
NM_170665.4:c.1761+107_1761+108del MANE Select	NP_733765.1:n.1761+107_1761+108del
NM_001681.4:c.1761+107_1761+108del	NP_001672.1:n.1761+107_1761+108del