Canonical Allele Identifier: CA2189347413

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78109309A= , CM000677.2:g.78109309A=	GRCh38
NC_000015.9:g.78401651A= , CM000677.1:g.78401651A=	GRCh37
NC_000015.8:g.76188706A=	NCBI36
NG_033006.1:g.27227T=

Transcript Alleles

HGVS	Amino-acid Change
NM_006383.4:c.272T= MANE Select	NP_006374.1:p.Phe91=
ENST00000258930.8:c.272T= MANE Select	ENSP00000258930.3:p.Phe91=
NM_001271888.1:c.143T=	NP_001258817.1:p.Phe48=
NM_001271888.2:c.143T=	NP_001258817.1:p.Phe48=
NM_001271889.1:c.125T=	NP_001258818.1:p.Phe42=
NM_001271889.2:c.125T=	NP_001258818.1:p.Phe42=
NM_001301224.1:c.287T=	NP_001288153.1:p.Phe96=
NM_001301224.2:c.287T=	NP_001288153.1:p.Phe96=
NM_006383.3:c.272T=	NP_006374.1:p.Phe91=
NR_125435.1:n.480T=
NR_125435.2:n.480T=
ENST00000258930.7:c.272T=	ENSP00000258930.3:p.Phe91=
ENST00000539011.5:c.143T=	ENSP00000442459.1:p.Phe48=
ENST00000557818.1:c.254T=	ENSP00000453654.1:n.254T=
ENST00000557846.5:c.125T=	ENSP00000453488.1:p.Phe42=
ENST00000557917.5:c.160T=	ENSP00000453963.1:p.Leu54=
ENST00000559054.1:c.143T=	ENSP00000453377.1:p.Phe48=
ENST00000559645.1:c.287T=	ENSP00000452980.1:p.Phe96=
ENST00000560618.5:c.143T=	ENSP00000452752.1:p.Phe48=
ENST00000561190.5:c.272T=	ENSP00000453256.1:p.Phe91=
ENST00000643268.1:c.288T=	ENSP00000494155.1:n.288T=
XM_005254126.2:c.272T=	XP_005254183.1:p.Phe91=
XM_005254126.3:c.272T=	XP_005254183.1:p.Phe91=
XM_006720374.2:c.143T=	XP_006720437.1:p.Phe48=
XM_011521161.1:c.143T=	XP_011519463.1:p.Phe48=
XM_011521161.2:c.143T=	XP_011519463.1:p.Phe48=
XR_001751051.1:n.1160T=