Canonical Allele Identifier: CA2023580619

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759716_26759719delinsGACA , CM000674.2:g.26759716_26759719delinsGACA	GRCh38
NC_000012.11:g.26912649_26912652delinsGACA , CM000674.1:g.26912649_26912652delinsGACA	GRCh37
NC_000012.10:g.26803916_26803919delinsGACA	NCBI36
NG_042142.1:g.78480_78483delinsTGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30438_163+30441delinsTGTC MANE Select	ENSP00000370744.3:n.163+30438_163+30441de...
ENST00000242737.5:c.163+30438_163+30441delinsTGTC	ENSP00000242737.5:n.163+30438_163+30441de...
ENST00000381340.7:c.163+30438_163+30441delinsTGTC	ENSP00000370744.3:n.163+30438_163+30441de...
ENST00000545235.1:c.93-33954_93-33951delinsTGTC	ENSP00000440548.1:n.93-33954_93-33951deli...
NM_002223.2:c.163+30438_163+30441delinsTGTC	NP_002214.2:n.163+30438_163+30441delinsTG...
NM_002223.3:c.163+30438_163+30441delinsTGTC	NP_002214.2:n.163+30438_163+30441delinsTG...
XR_931288.1:n.579+30438_579+30441delinsTGTC
XM_017019266.1:c.163+30438_163+30441delinsTGTC	XP_016874755.1:n.163+30438_163+30441delin...
XM_017019267.1:c.97+30438_97+30441delinsTGTC	XP_016874756.1:n.97+30438_97+30441delinsT...
XM_017019269.2:c.163+30438_163+30441delinsTGTC	XP_016874758.1:n.163+30438_163+30441delin...
XR_001748686.2:n.579+30438_579+30441delinsTGTC
XR_001748687.1:n.579+30438_579+30441delinsTGTC
NM_002223.4:c.163+30438_163+30441delinsTGTC MANE Select	NP_002214.2:n.163+30438_163+30441delinsTG...