Canonical Allele Identifier: CA120128
Gene: GCNT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9132
ClinVar RCV Id: RCV000009703
dbSNP Id: rs137853340
gnomAD v2: 6-10529827-G-A
gnomAD v3: 6-10529594-G-A
gnomAD v4: 6-10529594-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529594G>A , CM000668.2:g.10529594G>A GRCh38
NC_000006.11:g.10529827G>A , CM000668.1:g.10529827G>A GRCh37
NC_000006.10:g.10637813G>A NCBI36
NG_007469.3:g.42372G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000397423.7:n.484+753G>A
ENST00000495262.7:c.683G>A MANE Select ENSP00000419411.2:p.Arg228Gln
ENST00000379597.7:c.683G>A ENSP00000368917.3:p.Arg228Gln
ENST00000397423.6:n.484+753G>A
ENST00000410107.5:c.67+20436G>A ENSP00000386321.1:n.67+20436G>A
ENST00000474518.1:n.508+753G>A
ENST00000474983.5:n.1260G>A
ENST00000475577.5:n.254+1934G>A
ENST00000483204.1:n.1259G>A
ENST00000489225.5:n.283+36663G>A
ENST00000489819.5:n.175+8000G>A
ENST00000495262.5:c.683G>A ENSP00000419411.1:p.Arg228Gln
NM_145649.4:c.683G>A NP_663624.1:p.Arg228Gln
XM_005248999.2:c.452G>A XP_005249056.1:p.Arg151Gln
XM_006715052.2:c.683G>A XP_006715115.1:p.Arg228Gln
XM_006715053.2:c.683G>A XP_006715116.1:p.Arg228Gln
XM_011514465.1:c.683G>A XP_011512767.1:p.Arg228Gln
XM_011514467.1:c.452G>A XP_011512769.1:p.Arg151Gln
XM_011514468.1:c.683G>A XP_011512770.1:p.Arg228Gln
XR_926136.1:n.1234G>A
XM_006715052.3:c.683G>A XP_006715115.1:p.Arg228Gln
XM_011514468.3:c.683G>A XP_011512770.1:p.Arg228Gln
XM_017010732.2:c.683G>A XP_016866221.1:p.Arg228Gln
XR_002956275.1:n.1234G>A
XR_926136.2:n.1232G>A
NM_001374747.1:c.683G>A NP_001361676.1:p.Arg228Gln
NM_145649.5:c.683G>A MANE Select NP_663624.1:p.Arg228Gln