Canonical Allele Identifier: CA16510482

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78123480G>A , CM000677.2:g.78123480G>A	GRCh38
NC_000015.9:g.78415822G>A , CM000677.1:g.78415822G>A	GRCh37
NC_000015.8:g.76202877G>A	NCBI36
NG_033006.1:g.13056C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006383.4:c.86+225C>T MANE Select	NP_006374.1:n.86+225C>T
ENST00000258930.8:c.86+225C>T MANE Select	ENSP00000258930.3:n.86+225C>T
NM_001271888.1:c.-44+7685C>T	NP_001258817.1:n.-44+7685C>T
NM_001271888.2:c.-44+7685C>T	NP_001258817.1:n.-44+7685C>T
NM_001271889.1:c.51+7685C>T	NP_001258818.1:n.51+7685C>T
NM_001271889.2:c.51+7685C>T	NP_001258818.1:n.51+7685C>T
NM_001301224.1:c.86+225C>T	NP_001288153.1:n.86+225C>T
NM_001301224.2:c.86+225C>T	NP_001288153.1:n.86+225C>T
NM_006383.3:c.86+225C>T	NP_006374.1:n.86+225C>T
NR_125435.1:n.406+225C>T
NR_125435.2:n.406+225C>T
ENST00000258930.7:c.86+225C>T	ENSP00000258930.3:n.86+225C>T
ENST00000539011.5:c.-44+7685C>T	ENSP00000442459.1:n.-44+7685C>T
ENST00000557846.5:c.51+7685C>T	ENSP00000453488.1:n.51+7685C>T
ENST00000557917.5:c.86+225C>T	ENSP00000453963.1:n.86+225C>T
ENST00000559054.1:c.-138+225C>T	ENSP00000453377.1:n.-138+225C>T
ENST00000559645.1:c.86+225C>T	ENSP00000452980.1:n.86+225C>T
ENST00000560618.5:c.-44+7685C>T	ENSP00000452752.1:n.-44+7685C>T
ENST00000561190.5:c.86+225C>T	ENSP00000453256.1:n.86+225C>T
XM_005254126.2:c.86+225C>T	XP_005254183.1:n.86+225C>T
XM_005254126.3:c.86+225C>T	XP_005254183.1:n.86+225C>T
XM_006720374.2:c.-138+225C>T	XP_006720437.1:n.-138+225C>T
XM_011521161.1:c.-138+225C>T	XP_011519463.1:n.-138+225C>T
XM_011521161.2:c.-138+225C>T	XP_011519463.1:n.-138+225C>T
XR_001751051.1:n.847+225C>T