Canonical Allele Identifier: CA7680182

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78105915G>A , CM000677.2:g.78105915G>A	GRCh38
NC_000015.9:g.78398257G>A , CM000677.1:g.78398257G>A	GRCh37
NC_000015.8:g.76185312G>A	NCBI36
NG_033006.1:g.30621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258930.8:c.366C>T MANE Select	ENSP00000258930.3:p.Phe122=
ENST00000643268.1:c.382C>T	ENSP00000494155.1:n.382C>T
ENST00000258930.7:c.366C>T	ENSP00000258930.3:p.Phe122=
ENST00000539011.5:c.237C>T	ENSP00000442459.1:p.Phe79=
ENST00000557818.1:c.348C>T	ENSP00000453654.1:n.348C>T
ENST00000557846.5:c.219C>T	ENSP00000453488.1:p.Phe73=
ENST00000557917.5:c.254C>T	ENSP00000453963.1:p.Ser85Leu
ENST00000559645.1:c.381C>T	ENSP00000452980.1:p.Phe127=
ENST00000560618.5:c.237C>T	ENSP00000452752.1:p.Phe79=
ENST00000561190.5:c.347-583C>T	ENSP00000453256.1:n.347-583C>T
NM_001271888.1:c.237C>T	NP_001258817.1:p.Phe79=
NM_001271889.1:c.219C>T	NP_001258818.1:p.Phe73=
NM_001301224.1:c.381C>T	NP_001288153.1:p.Phe127=
NM_006383.3:c.366C>T	NP_006374.1:p.Phe122=
NR_125435.1:n.574C>T
XM_005254126.2:c.366C>T	XP_005254183.1:p.Phe122=
XM_006720374.2:c.237C>T	XP_006720437.1:p.Phe79=
XM_011521161.1:c.237C>T	XP_011519463.1:p.Phe79=
XM_005254126.3:c.366C>T	XP_005254183.1:p.Phe122=
XM_011521161.2:c.237C>T	XP_011519463.1:p.Phe79=
XR_001751051.1:n.1254C>T
NM_001271888.2:c.237C>T	NP_001258817.1:p.Phe79=
NM_001271889.2:c.219C>T	NP_001258818.1:p.Phe73=
NM_001301224.2:c.381C>T	NP_001288153.1:p.Phe127=
NM_006383.4:c.366C>T MANE Select	NP_006374.1:p.Phe122=
NR_125435.2:n.574C>T