Canonical Allele Identifier: CA7680261

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78109350C>T , CM000677.2:g.78109350C>T	GRCh38
NC_000015.9:g.78401692C>T , CM000677.1:g.78401692C>T	GRCh37
NC_000015.8:g.76188747C>T	NCBI36
NG_033006.1:g.27186G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258930.8:c.231G>A MANE Select	ENSP00000258930.3:p.Ala77=
ENST00000643268.1:c.247G>A	ENSP00000494155.1:n.247G>A
ENST00000258930.7:c.231G>A	ENSP00000258930.3:p.Ala77=
ENST00000539011.5:c.102G>A	ENSP00000442459.1:p.Ala34=
ENST00000557818.1:c.213G>A	ENSP00000453654.1:n.213G>A
ENST00000557846.5:c.84G>A	ENSP00000453488.1:p.Ala28=
ENST00000557917.5:c.119G>A	ENSP00000453963.1:p.Arg40His
ENST00000559054.1:c.102G>A	ENSP00000453377.1:p.Ala34=
ENST00000559645.1:c.246G>A	ENSP00000452980.1:p.Ala82=
ENST00000560618.5:c.102G>A	ENSP00000452752.1:p.Ala34=
ENST00000561190.5:c.231G>A	ENSP00000453256.1:p.Ala77=
NM_001271888.1:c.102G>A	NP_001258817.1:p.Ala34=
NM_001271889.1:c.84G>A	NP_001258818.1:p.Ala28=
NM_001301224.1:c.246G>A	NP_001288153.1:p.Ala82=
NM_006383.3:c.231G>A	NP_006374.1:p.Ala77=
NR_125435.1:n.439G>A
XM_005254126.2:c.231G>A	XP_005254183.1:p.Ala77=
XM_006720374.2:c.102G>A	XP_006720437.1:p.Ala34=
XM_011521161.1:c.102G>A	XP_011519463.1:p.Ala34=
XM_005254126.3:c.231G>A	XP_005254183.1:p.Ala77=
XM_011521161.2:c.102G>A	XP_011519463.1:p.Ala34=
XR_001751051.1:n.1119G>A
NM_001271888.2:c.102G>A	NP_001258817.1:p.Ala34=
NM_001271889.2:c.84G>A	NP_001258818.1:p.Ala28=
NM_001301224.2:c.246G>A	NP_001288153.1:p.Ala82=
NM_006383.4:c.231G>A MANE Select	NP_006374.1:p.Ala77=
NR_125435.2:n.439G>A