Canonical Allele Identifier: CA234327232

Gene: ITPR2

Linked Data

• dbSNP Id: rs1032478931
• gnomAD v3: 12-26613071-G-C
• gnomAD v4: 12-26613071-G-C
• MyVariant Identifiers: chr12:g.26766004G>C (hg19) ; chr12:g.26613071G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26613071G>C , CM000674.2:g.26613071G>C	GRCh38
NC_000012.11:g.26766004G>C , CM000674.1:g.26766004G>C	GRCh37
NC_000012.10:g.26657271G>C	NCBI36
NG_042142.1:g.225128C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.3462+8052C>G MANE Select	ENSP00000370744.3:n.3462+8052C>G
ENST00000381340.7:c.3462+8052C>G	ENSP00000370744.3:n.3462+8052C>G
NM_002223.2:c.3462+8052C>G	NP_002214.2:n.3462+8052C>G
NM_002223.3:c.3462+8052C>G	NP_002214.2:n.3462+8052C>G
XM_011520645.1:c.2910+8052C>G	XP_011518947.1:n.2910+8052C>G
XM_011520646.1:c.2529+8052C>G	XP_011518948.1:n.2529+8052C>G
XR_931288.1:n.3878+8052C>G
XM_017019266.1:c.3522+8052C>G	XP_016874755.1:n.3522+8052C>G
XM_017019267.1:c.3456+8052C>G	XP_016874756.1:n.3456+8052C>G
XM_017019269.2:c.3522+8052C>G	XP_016874758.1:n.3522+8052C>G
XR_001748686.2:n.3938+8052C>G
XR_001748687.1:n.3938+8052C>G
NM_002223.4:c.3462+8052C>G MANE Select	NP_002214.2:n.3462+8052C>G