Canonical Allele Identifier: CA2725943351
Gene: ITPR2 HGNC NCBI

Linked Data

dbSNP Id: rs2136779688

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26613077A>G , CM000674.2:g.26613077A>G GRCh38
NC_000012.11:g.26766010A>G , CM000674.1:g.26766010A>G GRCh37
NC_000012.10:g.26657277A>G NCBI36
NG_042142.1:g.225122T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381340.8:c.3462+8046T>C MANE Select ENSP00000370744.3:n.3462+8046T>C
ENST00000381340.7:c.3462+8046T>C ENSP00000370744.3:n.3462+8046T>C
NM_002223.2:c.3462+8046T>C NP_002214.2:n.3462+8046T>C
NM_002223.3:c.3462+8046T>C NP_002214.2:n.3462+8046T>C
XM_011520645.1:c.2910+8046T>C XP_011518947.1:n.2910+8046T>C
XM_011520646.1:c.2529+8046T>C XP_011518948.1:n.2529+8046T>C
XR_931288.1:n.3878+8046T>C
XM_017019266.1:c.3522+8046T>C XP_016874755.1:n.3522+8046T>C
XM_017019267.1:c.3456+8046T>C XP_016874756.1:n.3456+8046T>C
XM_017019269.2:c.3522+8046T>C XP_016874758.1:n.3522+8046T>C
XR_001748686.2:n.3938+8046T>C
XR_001748687.1:n.3938+8046T>C
NM_002223.4:c.3462+8046T>C MANE Select NP_002214.2:n.3462+8046T>C