Canonical Allele Identifier: CA7680111

Gene: CIB2

Linked Data

• ClinVar Variation Id: 499480
• ClinVar RCV Id: RCV000596997 ; RCV001195601 ; RCV001290343 ; RCV001328027
• dbSNP Id: rs370359511
• ExAC: 15:78397661 G / A
• gnomAD v2: 15-78397661-G-A
• gnomAD v3: 15-78105319-G-A
• gnomAD v4: 15-78105319-G-A
• MyVariant Identifiers: chr15:g.78397661G>A (hg19) ; chr15:g.78105319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78105319G>A , CM000677.2:g.78105319G>A	GRCh38
NC_000015.9:g.78397661G>A , CM000677.1:g.78397661G>A	GRCh37
NC_000015.8:g.76184716G>A	NCBI36
NG_033006.1:g.31217C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258930.8:c.556C>T MANE Select	ENSP00000258930.3:p.Arg186Trp
ENST00000643268.1:c.572C>T	ENSP00000494155.1:n.572C>T
ENST00000258930.7:c.556C>T	ENSP00000258930.3:p.Arg186Trp
ENST00000539011.5:c.427C>T	ENSP00000442459.1:p.Arg143Trp
ENST00000557818.1:c.538C>T	ENSP00000453654.1:n.538C>T
ENST00000557846.5:c.409C>T	ENSP00000453488.1:p.Arg137Trp
ENST00000557917.5:c.*165C>T	ENSP00000453963.1:n.*165C>T
ENST00000561190.5:c.360C>T	ENSP00000453256.1:p.Ser120=
NM_001271888.1:c.427C>T	NP_001258817.1:p.Arg143Trp
NM_001271889.1:c.409C>T	NP_001258818.1:p.Arg137Trp
NM_001301224.1:c.571C>T	NP_001288153.1:p.Arg191Trp
NM_006383.3:c.556C>T	NP_006374.1:p.Arg186Trp
NR_125435.1:n.764C>T
XM_006720374.2:c.427C>T	XP_006720437.1:p.Arg143Trp
XR_001751051.1:n.1444C>T
NM_001271888.2:c.427C>T	NP_001258817.1:p.Arg143Trp
NM_001271889.2:c.409C>T	NP_001258818.1:p.Arg137Trp
NM_001301224.2:c.571C>T	NP_001288153.1:p.Arg191Trp
NM_006383.4:c.556C>T MANE Select	NP_006374.1:p.Arg186Trp
NR_125435.2:n.764C>T