Canonical Allele Identifier: CA2500330620
Gene: ITPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26759787G>T , CM000674.2:g.26759787G>T GRCh38
NC_000012.11:g.26912720G>T , CM000674.1:g.26912720G>T GRCh37
NC_000012.10:g.26803987G>T NCBI36
NG_042142.1:g.78412C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381340.8:c.163+30370C>A MANE Select ENSP00000370744.3:n.163+30370C>A
ENST00000242737.5:c.163+30370C>A ENSP00000242737.5:n.163+30370C>A
ENST00000381340.7:c.163+30370C>A ENSP00000370744.3:n.163+30370C>A
ENST00000545235.1:c.93-34022C>A ENSP00000440548.1:n.93-34022C>A
NM_002223.2:c.163+30370C>A NP_002214.2:n.163+30370C>A
NM_002223.3:c.163+30370C>A NP_002214.2:n.163+30370C>A
XR_931288.1:n.579+30370C>A
XM_017019266.1:c.163+30370C>A XP_016874755.1:n.163+30370C>A
XM_017019267.1:c.97+30370C>A XP_016874756.1:n.97+30370C>A
XM_017019269.2:c.163+30370C>A XP_016874758.1:n.163+30370C>A
XR_001748686.2:n.579+30370C>A
XR_001748687.1:n.579+30370C>A
NM_002223.4:c.163+30370C>A MANE Select NP_002214.2:n.163+30370C>A
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