Canonical Allele Identifier: CA130456
Gene: CIB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 39685
dbSNP Id: rs397515411

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78109309A>G , CM000677.2:g.78109309A>G GRCh38
NC_000015.9:g.78401651A>G , CM000677.1:g.78401651A>G GRCh37
NC_000015.8:g.76188706A>G NCBI36
NG_033006.1:g.27227T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258930.8:c.272T>C MANE Select ENSP00000258930.3:p.Phe91Ser
ENST00000643268.1:c.288T>C ENSP00000494155.1:n.288T>C
ENST00000258930.7:c.272T>C ENSP00000258930.3:p.Phe91Ser
ENST00000539011.5:c.143T>C ENSP00000442459.1:p.Phe48Ser
ENST00000557818.1:c.254T>C ENSP00000453654.1:n.254T>C
ENST00000557846.5:c.125T>C ENSP00000453488.1:p.Phe42Ser
ENST00000557917.5:c.160T>C ENSP00000453963.1:p.Leu54=
ENST00000559054.1:c.143T>C ENSP00000453377.1:p.Phe48Ser
ENST00000559645.1:c.287T>C ENSP00000452980.1:p.Phe96Ser
ENST00000560618.5:c.143T>C ENSP00000452752.1:p.Phe48Ser
ENST00000561190.5:c.272T>C ENSP00000453256.1:p.Phe91Ser
NM_001271888.1:c.143T>C NP_001258817.1:p.Phe48Ser
NM_001271889.1:c.125T>C NP_001258818.1:p.Phe42Ser
NM_001301224.1:c.287T>C NP_001288153.1:p.Phe96Ser
NM_006383.3:c.272T>C NP_006374.1:p.Phe91Ser
NR_125435.1:n.480T>C
XM_005254126.2:c.272T>C XP_005254183.1:p.Phe91Ser
XM_006720374.2:c.143T>C XP_006720437.1:p.Phe48Ser
XM_011521161.1:c.143T>C XP_011519463.1:p.Phe48Ser
XM_005254126.3:c.272T>C XP_005254183.1:p.Phe91Ser
XM_011521161.2:c.143T>C XP_011519463.1:p.Phe48Ser
XR_001751051.1:n.1160T>C
NM_001271888.2:c.143T>C NP_001258817.1:p.Phe48Ser
NM_001271889.2:c.125T>C NP_001258818.1:p.Phe42Ser
NM_001301224.2:c.287T>C NP_001288153.1:p.Phe96Ser
NM_006383.4:c.272T>C MANE Select NP_006374.1:p.Phe91Ser
NR_125435.2:n.480T>C