Canonical Allele Identifier: CA2062803794

Gene: ATP2A2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110339820_110339824delinsCAAGA , CM000674.2:g.110339820_110339824delinsCAAGA	GRCh38
NC_000012.11:g.110777625_110777629delinsCAAGA , CM000674.1:g.110777625_110777629delinsCAAGA	GRCh37
NC_000012.10:g.109262008_109262012delinsCAAGA	NCBI36
NG_007097.2:g.63194_63198delinsCAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539276.7:c.1761+99_1761+103delinsCAAGA MANE Select	ENSP00000440045.2:n.1761+99_1761+103delinsCAAGA
ENST00000308664.10:c.1761+99_1761+103delinsCAAGA	ENSP00000311186.6:n.1761+99_1761+103delinsCAAGA
ENST00000377685.9:c.*1601+99_*1601+103delinsCAAGA	ENSP00000366913.4:n.*1601+99_*1601+103delinsCAAGA
ENST00000539276.6:c.1761+99_1761+103delinsCAAGA	ENSP00000440045.2:n.1761+99_1761+103delinsCAAGA
ENST00000548169.2:c.1432+99_1432+103delinsCAAGA
NM_001681.3:c.1761+99_1761+103delinsCAAGA	NP_001672.1:n.1761+99_1761+103delinsCAAGA
NM_170665.3:c.1761+99_1761+103delinsCAAGA	NP_733765.1:n.1761+99_1761+103delinsCAAGA
XM_005253888.1:c.1761+99_1761+103delinsCAAGA	XP_005253945.1:n.1761+99_1761+103delinsCAAGA
XM_011538402.1:c.1761+99_1761+103delinsCAAGA	XP_011536704.1:n.1761+99_1761+103delinsCAAGA
XM_011538403.1:c.1761+99_1761+103delinsCAAGA	XP_011536705.1:n.1761+99_1761+103delinsCAAGA
XR_243009.1:n.1767+99_1767+103delinsCAAGA
XM_005253888.3:c.1761+99_1761+103delinsCAAGA	XP_005253945.1:n.1761+99_1761+103delinsCAAGA
XM_011538402.3:c.1761+99_1761+103delinsCAAGA	XP_011536704.1:n.1761+99_1761+103delinsCAAGA
XR_002957329.1:n.1767+99_1767+103delinsCAAGA
XR_243009.3:n.1767+99_1767+103delinsCAAGA
NM_170665.4:c.1761+99_1761+103delinsCAAGA MANE Select	NP_733765.1:n.1761+99_1761+103delinsCAAGA
NM_001681.4:c.1761+99_1761+103delinsCAAGA	NP_001672.1:n.1761+99_1761+103delinsCAAGA