Canonical Allele Identifier: CA686856457

Gene: ITPR2

Linked Data

• dbSNP Id: rs1423385513
• gnomAD v3: 12-26759952-C-CT
• gnomAD v4: 12-26759952-C-CT
• MyVariant Identifiers: chr12:g.26912885_26912886insT (hg19) ; chr12:g.26759952_26759953insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26759953dup , CM000674.2:g.26759953dup	GRCh38
NC_000012.11:g.26912886dup , CM000674.1:g.26912886dup	GRCh37
NC_000012.10:g.26804153dup	NCBI36
NG_042142.1:g.78246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.163+30204dup MANE Select	ENSP00000370744.3:n.163+30204dup
ENST00000242737.5:c.163+30204dup	ENSP00000242737.5:n.163+30204dup
ENST00000381340.7:c.163+30204dup	ENSP00000370744.3:n.163+30204dup
ENST00000545235.1:c.93-34188dup	ENSP00000440548.1:n.93-34188dup
NM_002223.2:c.163+30204dup	NP_002214.2:n.163+30204dup
NM_002223.3:c.163+30204dup	NP_002214.2:n.163+30204dup
XR_931288.1:n.579+30204dup
XM_017019266.1:c.163+30204dup	XP_016874755.1:n.163+30204dup
XM_017019267.1:c.97+30204dup	XP_016874756.1:n.97+30204dup
XM_017019269.2:c.163+30204dup	XP_016874758.1:n.163+30204dup
XR_001748686.2:n.579+30204dup
XR_001748687.1:n.579+30204dup
NM_002223.4:c.163+30204dup MANE Select	NP_002214.2:n.163+30204dup