Canonical Allele Identifier: CA15725695
Gene: ITPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26336611G>T , CM000674.2:g.26336611G>T GRCh38
NC_000012.11:g.26489544G>T , CM000674.1:g.26489544G>T GRCh37
NC_000012.10:g.26380811G>T NCBI36
NG_042142.1:g.501588C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381340.8:c.*2786C>A MANE Select ENSP00000370744.3:n.*2786C>A
ENST00000381340.7:c.*2786C>A ENSP00000370744.3:n.*2786C>A
NM_002223.2:c.*2786C>A NP_002214.2:n.*2786C>A
NM_002223.3:c.*2786C>A NP_002214.2:n.*2786C>A
XM_011520645.1:c.*2786C>A XP_011518947.1:n.*2786C>A
XM_011520646.1:c.*2786C>A XP_011518948.1:n.*2786C>A
XM_017019266.1:c.*2786C>A XP_016874755.1:n.*2786C>A
NM_002223.4:c.*2786C>A MANE Select NP_002214.2:n.*2786C>A