Canonical Allele Identifier: CA3631755
Gene: GCNT2 HGNC NCBI

Linked Data

dbSNP Id: rs553334210
gnomAD v2: 6-10529626-A-G
gnomAD v3: 6-10529393-A-G
gnomAD v4: 6-10529393-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529393A>G , CM000668.2:g.10529393A>G GRCh38
NC_000006.11:g.10529626A>G , CM000668.1:g.10529626A>G GRCh37
NC_000006.10:g.10637612A>G NCBI36
NG_007469.3:g.42171A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+552A>G
ENST00000495262.7:c.482A>G MANE Select ENSP00000419411.2:p.Tyr161Cys
ENST00000379597.7:c.482A>G ENSP00000368917.3:p.Tyr161Cys
ENST00000397423.6:n.484+552A>G
ENST00000410107.5:c.67+20235A>G ENSP00000386321.1:n.67+20235A>G
ENST00000474518.1:n.508+552A>G
ENST00000474983.5:n.1059A>G
ENST00000475577.5:n.254+1733A>G
ENST00000483204.1:n.1058A>G
ENST00000489225.5:n.283+36462A>G
ENST00000489819.5:n.175+7799A>G
ENST00000495262.5:c.482A>G ENSP00000419411.1:p.Tyr161Cys
NM_145649.4:c.482A>G NP_663624.1:p.Tyr161Cys
XM_005248999.2:c.251A>G XP_005249056.1:p.Tyr84Cys
XM_006715052.2:c.482A>G XP_006715115.1:p.Tyr161Cys
XM_006715053.2:c.482A>G XP_006715116.1:p.Tyr161Cys
XM_011514465.1:c.482A>G XP_011512767.1:p.Tyr161Cys
XM_011514467.1:c.251A>G XP_011512769.1:p.Tyr84Cys
XM_011514468.1:c.482A>G XP_011512770.1:p.Tyr161Cys
XR_926136.1:n.1033A>G
XM_006715052.3:c.482A>G XP_006715115.1:p.Tyr161Cys
XM_011514468.3:c.482A>G XP_011512770.1:p.Tyr161Cys
XM_017010732.2:c.482A>G XP_016866221.1:p.Tyr161Cys
XR_002956275.1:n.1033A>G
XR_926136.2:n.1031A>G
NM_001374747.1:c.482A>G NP_001361676.1:p.Tyr161Cys
NM_145649.5:c.482A>G MANE Select NP_663624.1:p.Tyr161Cys