Canonical Allele Identifier: CA13684208

Gene: ITPR2

Linked Data

• dbSNP Id: rs10771279
• gnomAD v2: 12-26530543-T-C
• gnomAD v3: 12-26377610-T-C
• gnomAD v4: 12-26377610-T-C
• MyVariant Identifiers: chr12:g.26530543T>C (hg19) ; chr12:g.26377610T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26377610T>C , CM000674.2:g.26377610T>C	GRCh38
NC_000012.11:g.26530543T>C , CM000674.1:g.26530543T>C	GRCh37
NC_000012.10:g.26421810T>C	NCBI36
NG_042142.1:g.460589A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381340.8:c.7857+9824A>G MANE Select	ENSP00000370744.3:n.7857+9824A>G
ENST00000381340.7:c.7857+9824A>G	ENSP00000370744.3:n.7857+9824A>G
NM_002223.2:c.7857+9824A>G	NP_002214.2:n.7857+9824A>G
NM_002223.3:c.7857+9824A>G	NP_002214.2:n.7857+9824A>G
XM_011520645.1:c.7305+9824A>G	XP_011518947.1:n.7305+9824A>G
XM_011520646.1:c.6924+9824A>G	XP_011518948.1:n.6924+9824A>G
XM_017019266.1:c.7917+9824A>G	XP_016874755.1:n.7917+9824A>G
XM_017019267.1:c.7851+9824A>G	XP_016874756.1:n.7851+9824A>G
NM_002223.4:c.7857+9824A>G MANE Select	NP_002214.2:n.7857+9824A>G