Canonical Allele Identifier: CA3631780
Gene: GCNT2 HGNC NCBI

Linked Data

dbSNP Id: rs779553822
gnomAD v2: 6-10529745-A-G
gnomAD v4: 6-10529512-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529512A>G , CM000668.2:g.10529512A>G GRCh38
NC_000006.11:g.10529745A>G , CM000668.1:g.10529745A>G GRCh37
NC_000006.10:g.10637731A>G NCBI36
NG_007469.3:g.42290A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+671A>G
ENST00000495262.7:c.601A>G MANE Select ENSP00000419411.2:p.Arg201Gly
ENST00000379597.7:c.601A>G ENSP00000368917.3:p.Arg201Gly
ENST00000397423.6:n.484+671A>G
ENST00000410107.5:c.67+20354A>G ENSP00000386321.1:n.67+20354A>G
ENST00000474518.1:n.508+671A>G
ENST00000474983.5:n.1178A>G
ENST00000475577.5:n.254+1852A>G
ENST00000483204.1:n.1177A>G
ENST00000489225.5:n.283+36581A>G
ENST00000489819.5:n.175+7918A>G
ENST00000495262.5:c.601A>G ENSP00000419411.1:p.Arg201Gly
NM_145649.4:c.601A>G NP_663624.1:p.Arg201Gly
XM_005248999.2:c.370A>G XP_005249056.1:p.Arg124Gly
XM_006715052.2:c.601A>G XP_006715115.1:p.Arg201Gly
XM_006715053.2:c.601A>G XP_006715116.1:p.Arg201Gly
XM_011514465.1:c.601A>G XP_011512767.1:p.Arg201Gly
XM_011514467.1:c.370A>G XP_011512769.1:p.Arg124Gly
XM_011514468.1:c.601A>G XP_011512770.1:p.Arg201Gly
XR_926136.1:n.1152A>G
XM_006715052.3:c.601A>G XP_006715115.1:p.Arg201Gly
XM_011514468.3:c.601A>G XP_011512770.1:p.Arg201Gly
XM_017010732.2:c.601A>G XP_016866221.1:p.Arg201Gly
XR_002956275.1:n.1152A>G
XR_926136.2:n.1150A>G
NM_001374747.1:c.601A>G NP_001361676.1:p.Arg201Gly
NM_145649.5:c.601A>G MANE Select NP_663624.1:p.Arg201Gly