Canonical Allele Identifier: CA362709094
Gene: GCNT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529664A>T , CM000668.2:g.10529664A>T GRCh38
NC_000006.11:g.10529897A>T , CM000668.1:g.10529897A>T GRCh37
NC_000006.10:g.10637883A>T NCBI36
NG_007469.3:g.42442A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+823A>T
ENST00000495262.7:c.753A>T MANE Select ENSP00000419411.2:p.Lys251Asn
ENST00000379597.7:c.753A>T ENSP00000368917.3:p.Lys251Asn
ENST00000397423.6:n.484+823A>T
ENST00000410107.5:c.67+20506A>T ENSP00000386321.1:n.67+20506A>T
ENST00000474518.1:n.508+823A>T
ENST00000474983.5:n.1330A>T
ENST00000475577.5:n.254+2004A>T
ENST00000483204.1:n.1329A>T
ENST00000489225.5:n.283+36733A>T
ENST00000489819.5:n.175+8070A>T
ENST00000495262.5:c.753A>T ENSP00000419411.1:p.Lys251Asn
NM_145649.4:c.753A>T NP_663624.1:p.Lys251Asn
XM_005248999.2:c.522A>T XP_005249056.1:p.Lys174Asn
XM_006715052.2:c.753A>T XP_006715115.1:p.Lys251Asn
XM_006715053.2:c.753A>T XP_006715116.1:p.Lys251Asn
XM_011514465.1:c.753A>T XP_011512767.1:p.Lys251Asn
XM_011514467.1:c.522A>T XP_011512769.1:p.Lys174Asn
XM_011514468.1:c.753A>T XP_011512770.1:p.Lys251Asn
XR_926136.1:n.1304A>T
XM_006715052.3:c.753A>T XP_006715115.1:p.Lys251Asn
XM_011514468.3:c.753A>T XP_011512770.1:p.Lys251Asn
XM_017010732.2:c.753A>T XP_016866221.1:p.Lys251Asn
XR_002956275.1:n.1304A>T
XR_926136.2:n.1302A>T
NM_001374747.1:c.753A>T NP_001361676.1:p.Lys251Asn
NM_145649.5:c.753A>T MANE Select NP_663624.1:p.Lys251Asn