Canonical Allele Identifier: CA130457

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78109284G>C , CM000677.2:g.78109284G>C	GRCh38
NC_000015.9:g.78401626G>C , CM000677.1:g.78401626G>C	GRCh37
NC_000015.8:g.76188681G>C	NCBI36
NG_033006.1:g.27252C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258930.8:c.297C>G MANE Select	ENSP00000258930.3:p.Cys99Trp
ENST00000643268.1:c.313C>G	ENSP00000494155.1:n.313C>G
ENST00000258930.7:c.297C>G	ENSP00000258930.3:p.Cys99Trp
ENST00000539011.5:c.168C>G	ENSP00000442459.1:p.Cys56Trp
ENST00000557818.1:c.279C>G	ENSP00000453654.1:n.279C>G
ENST00000557846.5:c.150C>G	ENSP00000453488.1:p.Cys50Trp
ENST00000557917.5:c.185C>G	ENSP00000453963.1:p.Ala62Gly
ENST00000559645.1:c.312C>G	ENSP00000452980.1:p.Cys104Trp
ENST00000560618.5:c.168C>G	ENSP00000452752.1:p.Cys56Trp
ENST00000561190.5:c.297C>G	ENSP00000453256.1:p.Cys99Trp
NM_001271888.1:c.168C>G	NP_001258817.1:p.Cys56Trp
NM_001271889.1:c.150C>G	NP_001258818.1:p.Cys50Trp
NM_001301224.1:c.312C>G	NP_001288153.1:p.Cys104Trp
NM_006383.3:c.297C>G	NP_006374.1:p.Cys99Trp
NR_125435.1:n.505C>G
XM_005254126.2:c.297C>G	XP_005254183.1:p.Cys99Trp
XM_006720374.2:c.168C>G	XP_006720437.1:p.Cys56Trp
XM_011521161.1:c.168C>G	XP_011519463.1:p.Cys56Trp
XM_005254126.3:c.297C>G	XP_005254183.1:p.Cys99Trp
XM_011521161.2:c.168C>G	XP_011519463.1:p.Cys56Trp
XR_001751051.1:n.1185C>G
NM_001271888.2:c.168C>G	NP_001258817.1:p.Cys56Trp
NM_001271889.2:c.150C>G	NP_001258818.1:p.Cys50Trp
NM_001301224.2:c.312C>G	NP_001288153.1:p.Cys104Trp
NM_006383.4:c.297C>G MANE Select	NP_006374.1:p.Cys99Trp
NR_125435.2:n.505C>G