Canonical Allele Identifier: CA134063849
Community Standard Title: NM_145649.5(GCNT2):c.-58T>C
Gene: GCNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10528854T>C , CM000668.2:g.10528854T>C GRCh38
NC_000006.11:g.10529087T>C , CM000668.1:g.10529087T>C GRCh37
NC_000006.10:g.10637073T>C NCBI36
NG_007469.3:g.41632T>C

Transcript Alleles

HGVS Amino-acid Change
NM_145649.5:c.-58T>C MANE Select NP_663624.1:n.-58T>C
ENST00000495262.7:c.-58T>C MANE Select ENSP00000419411.2:n.-58T>C
NM_001374747.1:c.-58T>C NP_001361676.1:n.-58T>C
NM_145649.4:c.-58T>C NP_663624.1:n.-58T>C
ENST00000379597.7:c.-58T>C ENSP00000368917.3:n.-58T>C
ENST00000397423.6:n.484+13T>C
ENST00000397423.7:n.484+13T>C
ENST00000410107.5:c.67+19696T>C ENSP00000386321.1:n.67+19696T>C
ENST00000474518.1:n.508+13T>C
ENST00000474983.5:n.520T>C
ENST00000475577.5:n.254+1194T>C
ENST00000483204.1:n.519T>C
ENST00000483204.2:n.519T>C
ENST00000489225.5:n.283+35923T>C
ENST00000489819.5:n.175+7260T>C
ENST00000495262.5:c.-58T>C ENSP00000419411.1:n.-58T>C
ENST00000498320.5:n.533+13T>C
XM_005248999.2:c.-48+13T>C XP_005249056.1:n.-48+13T>C
XM_006715052.2:c.-58T>C XP_006715115.1:n.-58T>C
XM_006715052.3:c.-58T>C XP_006715115.1:n.-58T>C
XM_006715053.2:c.-58T>C XP_006715116.1:n.-58T>C
XM_011514465.1:c.-58T>C XP_011512767.1:n.-58T>C
XM_011514467.1:c.-48+13T>C XP_011512769.1:n.-48+13T>C
XM_011514468.1:c.-58T>C XP_011512770.1:n.-58T>C
XM_011514468.3:c.-58T>C XP_011512770.1:n.-58T>C
XM_017010732.2:c.-58T>C XP_016866221.1:n.-58T>C
XR_002956275.1:n.494T>C
XR_926136.1:n.494T>C
XR_926136.2:n.492T>C