Canonical Allele Identifier: CA2189347398
Community Standard Title: NM_006383.4(CIB2):c.297C= (p.Cys99=)
Gene: CIB2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_006383.4:c.297C= MANE Select NP_006374.1:p.Cys99=
ENST00000258930.8:c.297C= MANE Select ENSP00000258930.3:p.Cys99=
NM_001271888.1:c.168C= NP_001258817.1:p.Cys56=
NM_001271888.2:c.168C= NP_001258817.1:p.Cys56=
NM_001271889.1:c.150C= NP_001258818.1:p.Cys50=
NM_001271889.2:c.150C= NP_001258818.1:p.Cys50=
NM_001301224.1:c.312C= NP_001288153.1:p.Cys104=
NM_001301224.2:c.312C= NP_001288153.1:p.Cys104=
NM_006383.3:c.297C= NP_006374.1:p.Cys99=
NR_125435.1:n.505C=
NR_125435.2:n.505C=
ENST00000258930.7:c.297C= ENSP00000258930.3:p.Cys99=
ENST00000539011.5:c.168C= ENSP00000442459.1:p.Cys56=
ENST00000557818.1:c.279C= ENSP00000453654.1:n.279C=
ENST00000557846.5:c.150C= ENSP00000453488.1:p.Cys50=
ENST00000557917.5:c.185C= ENSP00000453963.1:p.Ala62=
ENST00000559645.1:c.312C= ENSP00000452980.1:p.Cys104=
ENST00000560618.5:c.168C= ENSP00000452752.1:p.Cys56=
ENST00000561190.5:c.297C= ENSP00000453256.1:p.Cys99=
ENST00000643268.1:c.313C= ENSP00000494155.1:n.313C=
XM_005254126.2:c.297C= XP_005254183.1:p.Cys99=
XM_005254126.3:c.297C= XP_005254183.1:p.Cys99=
XM_006720374.2:c.168C= XP_006720437.1:p.Cys56=
XM_011521161.1:c.168C= XP_011519463.1:p.Cys56=
XM_011521161.2:c.168C= XP_011519463.1:p.Cys56=
XR_001751051.1:n.1185C=