Canonical Allele Identifier: CA7680314

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78111167G>A , CM000677.2:g.78111167G>A	GRCh38
NC_000015.9:g.78403509G>A , CM000677.1:g.78403509G>A	GRCh37
NC_000015.8:g.76190564G>A	NCBI36
NG_033006.1:g.25369C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006383.4:c.196C>T MANE Select	NP_006374.1:p.Arg66Trp
ENST00000258930.8:c.196C>T MANE Select	ENSP00000258930.3:p.Arg66Trp
NM_001271888.1:c.67C>T	NP_001258817.1:p.Arg23Trp
NM_001271888.2:c.67C>T	NP_001258817.1:p.Arg23Trp
NM_001271889.1:c.52-1785C>T	NP_001258818.1:n.52-1785C>T
NM_001271889.2:c.52-1785C>T	NP_001258818.1:n.52-1785C>T
NM_001301224.1:c.87-1658C>T	NP_001288153.1:n.87-1658C>T
NM_001301224.2:c.87-1658C>T	NP_001288153.1:n.87-1658C>T
NM_006383.3:c.196C>T	NP_006374.1:p.Arg66Trp
NR_125435.1:n.407-1785C>T
NR_125435.2:n.407-1785C>T
ENST00000258930.7:c.196C>T	ENSP00000258930.3:p.Arg66Trp
ENST00000539011.5:c.67C>T	ENSP00000442459.1:p.Arg23Trp
ENST00000557818.1:c.100C>T	ENSP00000453654.1:p.Arg34Trp
ENST00000557846.5:c.52-1785C>T	ENSP00000453488.1:n.52-1785C>T
ENST00000557917.5:c.87-1785C>T	ENSP00000453963.1:n.87-1785C>T
ENST00000559054.1:c.67C>T	ENSP00000453377.1:p.Arg23Trp
ENST00000559645.1:c.87-1658C>T	ENSP00000452980.1:n.87-1658C>T
ENST00000560618.5:c.67C>T	ENSP00000452752.1:p.Arg23Trp
ENST00000561190.5:c.196C>T	ENSP00000453256.1:p.Arg66Trp
ENST00000643268.1:c.85C>T	ENSP00000494155.1:p.Arg29Trp
XM_005254126.2:c.196C>T	XP_005254183.1:p.Arg66Trp
XM_005254126.3:c.196C>T	XP_005254183.1:p.Arg66Trp
XM_006720374.2:c.67C>T	XP_006720437.1:p.Arg23Trp
XM_011521161.1:c.67C>T	XP_011519463.1:p.Arg23Trp
XM_011521161.2:c.67C>T	XP_011519463.1:p.Arg23Trp
XR_001751051.1:n.957C>T