Canonical Allele Identifier: CA686856391

Gene: ITPR2

Linked Data

• dbSNP Id: rs1173285436
• MyVariant Identifiers: chr12:g.26912731G>C (hg19) ; chr12:g.26759798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759798G>C , CM000674.2:g.26759798G>C	GRCh38
NC_000012.11:g.26912731G>C , CM000674.1:g.26912731G>C	GRCh37
NC_000012.10:g.26803998G>C	NCBI36
NG_042142.1:g.78401C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.163+30359C>G MANE Select	ENSP00000370744.3:n.163+30359C>G
ENST00000242737.5:c.163+30359C>G	ENSP00000242737.5:n.163+30359C>G
ENST00000381340.7:c.163+30359C>G	ENSP00000370744.3:n.163+30359C>G
ENST00000545235.1:c.93-34033C>G	ENSP00000440548.1:n.93-34033C>G
NM_002223.2:c.163+30359C>G	NP_002214.2:n.163+30359C>G
NM_002223.3:c.163+30359C>G	NP_002214.2:n.163+30359C>G
XR_931288.1:n.579+30359C>G
XM_017019266.1:c.163+30359C>G	XP_016874755.1:n.163+30359C>G
XM_017019267.1:c.97+30359C>G	XP_016874756.1:n.97+30359C>G
XM_017019269.2:c.163+30359C>G	XP_016874758.1:n.163+30359C>G
XR_001748686.2:n.579+30359C>G
XR_001748687.1:n.579+30359C>G
NM_002223.4:c.163+30359C>G MANE Select	NP_002214.2:n.163+30359C>G