Canonical Allele Identifier: CA130458

Gene: CIB2

Linked Data

• ClinVar Variation Id: 39687
• ClinVar RCV Id: RCV000032889
• dbSNP Id: rs397515412
• MyVariant Identifiers: chr15:g.78398255A>G (hg19) ; chr15:g.78105913A>G (hg38)
• PubMed: PMID:23023331

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78105913A>G , CM000677.2:g.78105913A>G	GRCh38
NC_000015.9:g.78398255A>G , CM000677.1:g.78398255A>G	GRCh37
NC_000015.8:g.76185310A>G	NCBI36
NG_033006.1:g.30623T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258930.8:c.368T>C MANE Select	ENSP00000258930.3:p.Ile123Thr
ENST00000643268.1:c.384T>C	ENSP00000494155.1:n.384T>C
ENST00000258930.7:c.368T>C	ENSP00000258930.3:p.Ile123Thr
ENST00000539011.5:c.239T>C	ENSP00000442459.1:p.Ile80Thr
ENST00000557818.1:c.350T>C	ENSP00000453654.1:n.350T>C
ENST00000557846.5:c.221T>C	ENSP00000453488.1:p.Ile74Thr
ENST00000557917.5:c.256T>C	ENSP00000453963.1:p.Ser86Pro
ENST00000559645.1:c.383T>C	ENSP00000452980.1:p.Ile128Thr
ENST00000560618.5:c.239T>C	ENSP00000452752.1:p.Ile80Thr
ENST00000561190.5:c.347-581T>C	ENSP00000453256.1:n.347-581T>C
NM_001271888.1:c.239T>C	NP_001258817.1:p.Ile80Thr
NM_001271889.1:c.221T>C	NP_001258818.1:p.Ile74Thr
NM_001301224.1:c.383T>C	NP_001288153.1:p.Ile128Thr
NM_006383.3:c.368T>C	NP_006374.1:p.Ile123Thr
NR_125435.1:n.576T>C
XM_005254126.2:c.368T>C	XP_005254183.1:p.Ile123Thr
XM_006720374.2:c.239T>C	XP_006720437.1:p.Ile80Thr
XM_011521161.1:c.239T>C	XP_011519463.1:p.Ile80Thr
XM_005254126.3:c.368T>C	XP_005254183.1:p.Ile123Thr
XM_011521161.2:c.239T>C	XP_011519463.1:p.Ile80Thr
XR_001751051.1:n.1256T>C
NM_001271888.2:c.239T>C	NP_001258817.1:p.Ile80Thr
NM_001271889.2:c.221T>C	NP_001258818.1:p.Ile74Thr
NM_001301224.2:c.383T>C	NP_001288153.1:p.Ile128Thr
NM_006383.4:c.368T>C MANE Select	NP_006374.1:p.Ile123Thr
NR_125435.2:n.576T>C