Canonical Allele Identifier: CA2519148783

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759792_26759793insTAACTCTGTATTTAATTTGG , CM000674.2:g.26759792_26759793insTAACTCTGTATTTAATTTGG	GRCh38
NC_000012.11:g.26912725_26912726insTAACTCTGTATTTAATTTGG , CM000674.1:g.26912725_26912726insTAACTCTGTATTTAATTTGG	GRCh37
NC_000012.10:g.26803992_26803993insTAACTCTGTATTTAATTTGG	NCBI36
NG_042142.1:g.78407_78408insCAAATTAAATACAGAGTTAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC MANE Select	ENSP00000370744.3:n.163+30365_163+30366in...
ENST00000242737.5:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC	ENSP00000242737.5:n.163+30365_163+30366in...
ENST00000381340.7:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC	ENSP00000370744.3:n.163+30365_163+30366in...
ENST00000545235.1:c.93-34027_93-34026insCAAATTAAATACAGAGTTAC	ENSP00000440548.1:n.93-34027_93-34026insC...
NM_002223.2:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC	NP_002214.2:n.163+30365_163+30366insCAAAT...
NM_002223.3:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC	NP_002214.2:n.163+30365_163+30366insCAAAT...
XR_931288.1:n.579+30365_579+30366insCAAATTAAATACAGAGTTAC
XM_017019266.1:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC	XP_016874755.1:n.163+30365_163+30366insCA...
XM_017019267.1:c.97+30365_97+30366insCAAATTAAATACAGAGTTAC	XP_016874756.1:n.97+30365_97+30366insCAAA...
XM_017019269.2:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC	XP_016874758.1:n.163+30365_163+30366insCA...
XR_001748686.2:n.579+30365_579+30366insCAAATTAAATACAGAGTTAC
XR_001748687.1:n.579+30365_579+30366insCAAATTAAATACAGAGTTAC
NM_002223.4:c.163+30365_163+30366insCAAATTAAATACAGAGTTAC MANE Select	NP_002214.2:n.163+30365_163+30366insCAAAT...