Canonical Allele Identifier: CA130456

Gene: CIB2

Linked Data

• ClinVar Variation Id: 39685
• ClinVar RCV Id: RCV000032887 ; RCV001291223 ; RCV002496493
• dbSNP Id: rs397515411
• ExAC: 15:78401651 A / G
• gnomAD v2: 15-78401651-A-G
• gnomAD v4: 15-78109309-A-G
• MyVariant Identifiers: chr15:g.78401651A>G (hg19) ; chr15:g.78109309A>G (hg38)
• PubMed: PMID:23023331

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