Canonical Allele Identifier: CA6490130

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26722518T>C , CM000674.2:g.26722518T>C	GRCh38
NC_000012.11:g.26875451T>C , CM000674.1:g.26875451T>C	GRCh37
NC_000012.10:g.26766718T>C	NCBI36
NG_042142.1:g.115681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381340.8:c.404A>G MANE Select	ENSP00000370744.3:p.Asn135Ser
ENST00000242737.5:c.404A>G	ENSP00000242737.5:p.Asn135Ser
ENST00000381340.7:c.404A>G	ENSP00000370744.3:p.Asn135Ser
ENST00000536627.1:n.489A>G
ENST00000545235.1:c.*93A>G	ENSP00000440548.1:n.*93A>G
NM_002223.2:c.404A>G	NP_002214.2:p.Asn135Ser
NM_002223.3:c.404A>G	NP_002214.2:p.Asn135Ser
XR_931288.1:n.820A>G
XM_017019266.1:c.404A>G	XP_016874755.1:p.Asn135Ser
XM_017019267.1:c.338A>G	XP_016874756.1:p.Asn113Ser
XM_017019269.2:c.404A>G	XP_016874758.1:p.Asn135Ser
XR_001748686.2:n.820A>G
XR_001748687.1:n.820A>G
NM_002223.4:c.404A>G MANE Select	NP_002214.2:p.Asn135Ser