Canonical Allele Identifier: CA2023454149

Gene: ITPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26433073A= , CM000674.2:g.26433073A=	GRCh38
NC_000012.11:g.26586006A= , CM000674.1:g.26586006A=	GRCh37
NC_000012.10:g.26477273A=	NCBI36
NG_042142.1:g.405126T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002223.4:c.6769+3148T= MANE Select	NP_002214.2:n.6769+3148T=
ENST00000381340.8:c.6769+3148T= MANE Select	ENSP00000370744.3:n.6769+3148T=
NM_002223.2:c.6769+3148T=	NP_002214.2:n.6769+3148T=
NM_002223.3:c.6769+3148T=	NP_002214.2:n.6769+3148T=
ENST00000381340.7:c.6769+3148T=	ENSP00000370744.3:n.6769+3148T=
ENST00000451599.6:c.1597+3148T=	ENSP00000408287.2:n.1597+3148T=
XM_011520645.1:c.6217+3148T=	XP_011518947.1:n.6217+3148T=
XM_011520646.1:c.5836+3148T=	XP_011518948.1:n.5836+3148T=
XM_017019266.1:c.6829+3148T=	XP_016874755.1:n.6829+3148T=
XM_017019267.1:c.6763+3148T=	XP_016874756.1:n.6763+3148T=
XR_001748686.2:n.7245+3148T=