Canonical Allele Identifier: CA234843514

Gene: ITPR2

Linked Data

• dbSNP Id: rs755006727
• gnomAD v3: 12-26759805-CTGAACTAAAAAAACTAACAGCAATA-C
• gnomAD v4: 12-26759805-CTGAACTAAAAAAACTAACAGCAATA-C
• MyVariant Identifiers: chr12:g.26912739_26912763del (hg19) ; chr12:g.26759806_26759830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759808_26759832del , CM000674.2:g.26759808_26759832del	GRCh38
NC_000012.11:g.26912741_26912765del , CM000674.1:g.26912741_26912765del	GRCh37
NC_000012.10:g.26804008_26804032del	NCBI36
NG_042142.1:g.78369_78393del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30327_163+30351del MANE Select	ENSP00000370744.3:n.163+30327_163+30351de...
ENST00000242737.5:c.163+30327_163+30351del	ENSP00000242737.5:n.163+30327_163+30351de...
ENST00000381340.7:c.163+30327_163+30351del	ENSP00000370744.3:n.163+30327_163+30351de...
ENST00000545235.1:c.93-34065_93-34041del	ENSP00000440548.1:n.93-34065_93-34041del
NM_002223.2:c.163+30327_163+30351del	NP_002214.2:n.163+30327_163+30351del
NM_002223.3:c.163+30327_163+30351del	NP_002214.2:n.163+30327_163+30351del
XR_931288.1:n.579+30327_579+30351del
XM_017019266.1:c.163+30327_163+30351del	XP_016874755.1:n.163+30327_163+30351del
XM_017019267.1:c.97+30327_97+30351del	XP_016874756.1:n.97+30327_97+30351del
XM_017019269.2:c.163+30327_163+30351del	XP_016874758.1:n.163+30327_163+30351del
XR_001748686.2:n.579+30327_579+30351del
XR_001748687.1:n.579+30327_579+30351del
NM_002223.4:c.163+30327_163+30351del MANE Select	NP_002214.2:n.163+30327_163+30351del