Canonical Allele Identifier: CA234294920
Gene: ITPR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26575582A>G , CM000674.2:g.26575582A>G GRCh38
NC_000012.11:g.26728515A>G , CM000674.1:g.26728515A>G GRCh37
NC_000012.10:g.26619782A>G NCBI36
NG_042142.1:g.262617T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381340.8:c.4630+3131T>C MANE Select ENSP00000370744.3:n.4630+3131T>C
ENST00000381340.7:c.4630+3131T>C ENSP00000370744.3:n.4630+3131T>C
NM_002223.2:c.4630+3131T>C NP_002214.2:n.4630+3131T>C
NM_002223.3:c.4630+3131T>C NP_002214.2:n.4630+3131T>C
XM_011520645.1:c.4078+3131T>C XP_011518947.1:n.4078+3131T>C
XM_011520646.1:c.3697+3131T>C XP_011518948.1:n.3697+3131T>C
XR_931288.1:n.5046+3131T>C
XM_017019266.1:c.4690+3131T>C XP_016874755.1:n.4690+3131T>C
XM_017019267.1:c.4624+3131T>C XP_016874756.1:n.4624+3131T>C
XM_017019269.2:c.4690+3131T>C XP_016874758.1:n.4690+3131T>C
XR_001748686.2:n.5106+3131T>C
XR_001748687.1:n.5106+3131T>C
NM_002223.4:c.4630+3131T>C MANE Select NP_002214.2:n.4630+3131T>C
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