Canonical Allele Identifier: CA919047663
Gene: ITPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1565742680

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26759721_26759723del , CM000674.2:g.26759721_26759723del GRCh38
NC_000012.11:g.26912654_26912656del , CM000674.1:g.26912654_26912656del GRCh37
NC_000012.10:g.26803921_26803923del NCBI36
NG_042142.1:g.78480_78482del

Transcript Alleles

HGVS Amino-acid change
ENST00000381340.8:c.163+30438_163+30440del MANE Select ENSP00000370744.3:n.163+30438_163+30440de...
ENST00000242737.5:c.163+30438_163+30440del ENSP00000242737.5:n.163+30438_163+30440de...
ENST00000381340.7:c.163+30438_163+30440del ENSP00000370744.3:n.163+30438_163+30440de...
ENST00000545235.1:c.93-33954_93-33952del ENSP00000440548.1:n.93-33954_93-33952del
NM_002223.2:c.163+30438_163+30440del NP_002214.2:n.163+30438_163+30440del
NM_002223.3:c.163+30438_163+30440del NP_002214.2:n.163+30438_163+30440del
XR_931288.1:n.579+30438_579+30440del
XM_017019266.1:c.163+30438_163+30440del XP_016874755.1:n.163+30438_163+30440del
XM_017019267.1:c.97+30438_97+30440del XP_016874756.1:n.97+30438_97+30440del
XM_017019269.2:c.163+30438_163+30440del XP_016874758.1:n.163+30438_163+30440del
XR_001748686.2:n.579+30438_579+30440del
XR_001748687.1:n.579+30438_579+30440del
NM_002223.4:c.163+30438_163+30440del MANE Select NP_002214.2:n.163+30438_163+30440del