Canonical Allele Identifier: CA203086

Gene: CIB2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78105833C>T , CM000677.2:g.78105833C>T	GRCh38
NC_000015.9:g.78398175C>T , CM000677.1:g.78398175C>T	GRCh37
NC_000015.8:g.76185230C>T	NCBI36
NG_033006.1:g.30703G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006383.4:c.448G>A MANE Select	NP_006374.1:p.Asp150Asn
ENST00000258930.8:c.448G>A MANE Select	ENSP00000258930.3:p.Asp150Asn
NM_001271888.1:c.319G>A	NP_001258817.1:p.Asp107Asn
NM_001271888.2:c.319G>A	NP_001258817.1:p.Asp107Asn
NM_001271889.1:c.301G>A	NP_001258818.1:p.Asp101Asn
NM_001271889.2:c.301G>A	NP_001258818.1:p.Asp101Asn
NM_001301224.1:c.463G>A	NP_001288153.1:p.Asp155Asn
NM_001301224.2:c.463G>A	NP_001288153.1:p.Asp155Asn
NM_006383.3:c.448G>A	NP_006374.1:p.Asp150Asn
NR_125435.1:n.656G>A
NR_125435.2:n.656G>A
ENST00000258930.7:c.448G>A	ENSP00000258930.3:p.Asp150Asn
ENST00000539011.5:c.319G>A	ENSP00000442459.1:p.Asp107Asn
ENST00000557818.1:c.430G>A	ENSP00000453654.1:n.430G>A
ENST00000557846.5:c.301G>A	ENSP00000453488.1:p.Asp101Asn
ENST00000557917.5:c.*57G>A	ENSP00000453963.1:n.*57G>A
ENST00000560618.5:c.319G>A	ENSP00000452752.1:p.Asp107Asn
ENST00000561190.5:c.347-501G>A	ENSP00000453256.1:n.347-501G>A
ENST00000643268.1:c.464G>A	ENSP00000494155.1:n.464G>A
XM_005254126.2:c.448G>A	XP_005254183.1:p.Asp150Asn
XM_005254126.3:c.448G>A	XP_005254183.1:p.Asp150Asn
XM_006720374.2:c.319G>A	XP_006720437.1:p.Asp107Asn
XM_011521161.1:c.319G>A	XP_011519463.1:p.Asp107Asn
XM_011521161.2:c.319G>A	XP_011519463.1:p.Asp107Asn
XR_001751051.1:n.1336G>A