Canonical Allele Identifier: CA234843517

Gene: ITPR2

Linked Data

• dbSNP Id: rs575800074
• gnomAD v2: 12-26912765-G-A
• gnomAD v3: 12-26759832-G-A
• gnomAD v4: 12-26759832-G-A
• MyVariant Identifiers: chr12:g.26912765G>A (hg19) ; chr12:g.26759832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759832G>A , CM000674.2:g.26759832G>A	GRCh38
NC_000012.11:g.26912765G>A , CM000674.1:g.26912765G>A	GRCh37
NC_000012.10:g.26804032G>A	NCBI36
NG_042142.1:g.78367C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30325C>T MANE Select	ENSP00000370744.3:n.163+30325C>T
ENST00000242737.5:c.163+30325C>T	ENSP00000242737.5:n.163+30325C>T
ENST00000381340.7:c.163+30325C>T	ENSP00000370744.3:n.163+30325C>T
ENST00000545235.1:c.93-34067C>T	ENSP00000440548.1:n.93-34067C>T
NM_002223.2:c.163+30325C>T	NP_002214.2:n.163+30325C>T
NM_002223.3:c.163+30325C>T	NP_002214.2:n.163+30325C>T
XR_931288.1:n.579+30325C>T
XM_017019266.1:c.163+30325C>T	XP_016874755.1:n.163+30325C>T
XM_017019267.1:c.97+30325C>T	XP_016874756.1:n.97+30325C>T
XM_017019269.2:c.163+30325C>T	XP_016874758.1:n.163+30325C>T
XR_001748686.2:n.579+30325C>T
XR_001748687.1:n.579+30325C>T
NM_002223.4:c.163+30325C>T MANE Select	NP_002214.2:n.163+30325C>T