Canonical Allele Identifier: CA7680235

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78109270C>T , CM000677.2:g.78109270C>T	GRCh38
NC_000015.9:g.78401612C>T , CM000677.1:g.78401612C>T	GRCh37
NC_000015.8:g.76188667C>T	NCBI36
NG_033006.1:g.27266G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006383.4:c.311G>A MANE Select	NP_006374.1:p.Arg104Gln
ENST00000258930.8:c.311G>A MANE Select	ENSP00000258930.3:p.Arg104Gln
NM_001271888.1:c.182G>A	NP_001258817.1:p.Arg61Gln
NM_001271888.2:c.182G>A	NP_001258817.1:p.Arg61Gln
NM_001271889.1:c.164G>A	NP_001258818.1:p.Arg55Gln
NM_001271889.2:c.164G>A	NP_001258818.1:p.Arg55Gln
NM_001301224.1:c.326G>A	NP_001288153.1:p.Arg109Gln
NM_001301224.2:c.326G>A	NP_001288153.1:p.Arg109Gln
NM_006383.3:c.311G>A	NP_006374.1:p.Arg104Gln
NR_125435.1:n.519G>A
NR_125435.2:n.519G>A
ENST00000258930.7:c.311G>A	ENSP00000258930.3:p.Arg104Gln
ENST00000539011.5:c.182G>A	ENSP00000442459.1:p.Arg61Gln
ENST00000557818.1:c.293G>A	ENSP00000453654.1:n.293G>A
ENST00000557846.5:c.164G>A	ENSP00000453488.1:p.Arg55Gln
ENST00000557917.5:c.199G>A	ENSP00000453963.1:p.Glu67Lys
ENST00000559645.1:c.326G>A	ENSP00000452980.1:p.Arg109Gln
ENST00000560618.5:c.182G>A	ENSP00000452752.1:p.Arg61Gln
ENST00000561190.5:c.311G>A	ENSP00000453256.1:p.Arg104Gln
ENST00000643268.1:c.327G>A	ENSP00000494155.1:n.327G>A
XM_005254126.2:c.311G>A	XP_005254183.1:p.Arg104Gln
XM_005254126.3:c.311G>A	XP_005254183.1:p.Arg104Gln
XM_006720374.2:c.182G>A	XP_006720437.1:p.Arg61Gln
XM_011521161.1:c.182G>A	XP_011519463.1:p.Arg61Gln
XM_011521161.2:c.182G>A	XP_011519463.1:p.Arg61Gln
XR_001751051.1:n.1199G>A