Canonical Allele Identifier: CA13773428

Gene: ITPR2

Linked Data

• dbSNP Id: rs7134213
• gnomAD v2: 12-26819879-T-C
• gnomAD v3: 12-26666946-T-C
• gnomAD v4: 12-26666946-T-C
• MyVariant Identifiers: chr12:g.26819879T>C (hg19) ; chr12:g.26666946T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26666946T>C , CM000674.2:g.26666946T>C	GRCh38
NC_000012.11:g.26819879T>C , CM000674.1:g.26819879T>C	GRCh37
NC_000012.10:g.26711146T>C	NCBI36
NG_042142.1:g.171253A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.1410-895A>G MANE Select	ENSP00000370744.3:n.1410-895A>G
ENST00000381340.7:c.1410-895A>G	ENSP00000370744.3:n.1410-895A>G
NM_002223.2:c.1410-895A>G	NP_002214.2:n.1410-895A>G
NM_002223.3:c.1410-895A>G	NP_002214.2:n.1410-895A>G
XM_011520645.1:c.858-895A>G	XP_011518947.1:n.858-895A>G
XM_011520646.1:c.477-895A>G	XP_011518948.1:n.477-895A>G
XR_931288.1:n.1826-895A>G
XM_017019266.1:c.1470-895A>G	XP_016874755.1:n.1470-895A>G
XM_017019267.1:c.1404-895A>G	XP_016874756.1:n.1404-895A>G
XM_017019269.2:c.1470-895A>G	XP_016874758.1:n.1470-895A>G
XR_001748686.2:n.1886-895A>G
XR_001748687.1:n.1886-895A>G
NM_002223.4:c.1410-895A>G MANE Select	NP_002214.2:n.1410-895A>G