Canonical Allele Identifier: CA686891991

Gene: ITPR2

Linked Data

• dbSNP Id: rs1390026456
• gnomAD v3: 12-26613013-T-A
• gnomAD v4: 12-26613013-T-A
• MyVariant Identifiers: chr12:g.26765946T>A (hg19) ; chr12:g.26613013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26613013T>A , CM000674.2:g.26613013T>A	GRCh38
NC_000012.11:g.26765946T>A , CM000674.1:g.26765946T>A	GRCh37
NC_000012.10:g.26657213T>A	NCBI36
NG_042142.1:g.225186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.3462+8110A>T MANE Select	ENSP00000370744.3:n.3462+8110A>T
ENST00000381340.7:c.3462+8110A>T	ENSP00000370744.3:n.3462+8110A>T
NM_002223.2:c.3462+8110A>T	NP_002214.2:n.3462+8110A>T
NM_002223.3:c.3462+8110A>T	NP_002214.2:n.3462+8110A>T
XM_011520645.1:c.2910+8110A>T	XP_011518947.1:n.2910+8110A>T
XM_011520646.1:c.2529+8110A>T	XP_011518948.1:n.2529+8110A>T
XR_931288.1:n.3878+8110A>T
XM_017019266.1:c.3522+8110A>T	XP_016874755.1:n.3522+8110A>T
XM_017019267.1:c.3456+8110A>T	XP_016874756.1:n.3456+8110A>T
XM_017019269.2:c.3522+8110A>T	XP_016874758.1:n.3522+8110A>T
XR_001748686.2:n.3938+8110A>T
XR_001748687.1:n.3938+8110A>T
NM_002223.4:c.3462+8110A>T MANE Select	NP_002214.2:n.3462+8110A>T