Canonical Allele Identifier: CA234843513

Gene: ITPR2

Linked Data

• dbSNP Id: rs748594565
• gnomAD v3: 12-26759788-C-T
• gnomAD v4: 12-26759788-C-T
• MyVariant Identifiers: chr12:g.26912721C>T (hg19) ; chr12:g.26759788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759788C>T , CM000674.2:g.26759788C>T	GRCh38
NC_000012.11:g.26912721C>T , CM000674.1:g.26912721C>T	GRCh37
NC_000012.10:g.26803988C>T	NCBI36
NG_042142.1:g.78411G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30369G>A MANE Select	ENSP00000370744.3:n.163+30369G>A
ENST00000242737.5:c.163+30369G>A	ENSP00000242737.5:n.163+30369G>A
ENST00000381340.7:c.163+30369G>A	ENSP00000370744.3:n.163+30369G>A
ENST00000545235.1:c.93-34023G>A	ENSP00000440548.1:n.93-34023G>A
NM_002223.2:c.163+30369G>A	NP_002214.2:n.163+30369G>A
NM_002223.3:c.163+30369G>A	NP_002214.2:n.163+30369G>A
XR_931288.1:n.579+30369G>A
XM_017019266.1:c.163+30369G>A	XP_016874755.1:n.163+30369G>A
XM_017019267.1:c.97+30369G>A	XP_016874756.1:n.97+30369G>A
XM_017019269.2:c.163+30369G>A	XP_016874758.1:n.163+30369G>A
XR_001748686.2:n.579+30369G>A
XR_001748687.1:n.579+30369G>A
NM_002223.4:c.163+30369G>A MANE Select	NP_002214.2:n.163+30369G>A