Canonical Allele Identifier: CA362714455
Gene: GCNT2 HGNC NCBI

Linked Data

gnomAD v4: 6-10556690-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10556690A>T , CM000668.2:g.10556690A>T GRCh38
NC_000006.11:g.10556923A>T , CM000668.1:g.10556923A>T GRCh37
NC_000006.10:g.10664909A>T NCBI36
NG_007469.3:g.69468A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316170.9:c.267A>T MANE Plus Clinical ENSP00000314844.3:p.Glu89Asp
ENST00000397423.7:n.484+27849A>T
ENST00000495262.7:c.925+26854A>T MANE Select ENSP00000419411.2:n.925+26854A>T
ENST00000640968.1:c.267A>T ENSP00000492466.1:p.Glu89Asp
ENST00000316170.7:c.267A>T ENSP00000314844.3:p.Glu89Asp
ENST00000379597.7:c.925+26854A>T ENSP00000368917.3:n.925+26854A>T
ENST00000397423.6:n.484+27849A>T
ENST00000410107.5:c.67+47532A>T ENSP00000386321.1:n.67+47532A>T
ENST00000461400.1:n.25+26854A>T
ENST00000474518.1:n.508+27849A>T
ENST00000475577.5:n.254+29030A>T
ENST00000485764.1:n.40+26854A>T
ENST00000489225.5:n.283+63759A>T
ENST00000489819.5:n.175+35096A>T
ENST00000495262.5:c.925+26854A>T ENSP00000419411.1:n.925+26854A>T
NM_001491.2:c.267A>T NP_001482.1:p.Glu89Asp
NM_145649.4:c.925+26854A>T NP_663624.1:n.925+26854A>T
XM_005248997.2:c.267A>T XP_005249054.1:p.Glu89Asp
XM_005248999.2:c.694+26854A>T XP_005249056.1:n.694+26854A>T
XM_006715052.2:c.925+26854A>T XP_006715115.1:n.925+26854A>T
XM_011514465.1:c.926-16440A>T XP_011512767.1:n.926-16440A>T
XM_011514467.1:c.694+26854A>T XP_011512769.1:n.694+26854A>T
XR_926136.1:n.1476+26854A>T
XM_005248997.3:c.267A>T XP_005249054.1:p.Glu89Asp
XM_006715052.3:c.925+26854A>T XP_006715115.1:n.925+26854A>T
XR_002956275.1:n.1476+26854A>T
XR_926136.2:n.1474+26854A>T
NM_001374747.1:c.925+26854A>T NP_001361676.1:n.925+26854A>T
NM_001491.3:c.267A>T MANE Plus Clinical NP_001482.1:p.Glu89Asp
NM_145649.5:c.925+26854A>T MANE Select NP_663624.1:n.925+26854A>T