Canonical Allele Identifier: CA362707424

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529284-T-C
• MyVariant Identifiers: chr6:g.10529517T>C (hg19) ; chr6:g.10529284T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529284T>C , CM000668.2:g.10529284T>C	GRCh38
NC_000006.11:g.10529517T>C , CM000668.1:g.10529517T>C	GRCh37
NC_000006.10:g.10637503T>C	NCBI36
NG_007469.3:g.42062T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+443T>C
ENST00000495262.7:c.373T>C MANE Select	ENSP00000419411.2:p.Cys125Arg
ENST00000379597.7:c.373T>C	ENSP00000368917.3:p.Cys125Arg
ENST00000397423.6:n.484+443T>C
ENST00000410107.5:c.67+20126T>C	ENSP00000386321.1:n.67+20126T>C
ENST00000474518.1:n.508+443T>C
ENST00000474983.5:n.950T>C
ENST00000475577.5:n.254+1624T>C
ENST00000483204.1:n.949T>C
ENST00000489225.5:n.283+36353T>C
ENST00000489819.5:n.175+7690T>C
ENST00000495262.5:c.373T>C	ENSP00000419411.1:p.Cys125Arg
NM_145649.4:c.373T>C	NP_663624.1:p.Cys125Arg
XM_005248999.2:c.142T>C	XP_005249056.1:p.Cys48Arg
XM_006715052.2:c.373T>C	XP_006715115.1:p.Cys125Arg
XM_006715053.2:c.373T>C	XP_006715116.1:p.Cys125Arg
XM_011514465.1:c.373T>C	XP_011512767.1:p.Cys125Arg
XM_011514467.1:c.142T>C	XP_011512769.1:p.Cys48Arg
XM_011514468.1:c.373T>C	XP_011512770.1:p.Cys125Arg
XR_926136.1:n.924T>C
XM_006715052.3:c.373T>C	XP_006715115.1:p.Cys125Arg
XM_011514468.3:c.373T>C	XP_011512770.1:p.Cys125Arg
XM_017010732.2:c.373T>C	XP_016866221.1:p.Cys125Arg
XR_002956275.1:n.924T>C
XR_926136.2:n.922T>C
NM_001374747.1:c.373T>C	NP_001361676.1:p.Cys125Arg
NM_145649.5:c.373T>C MANE Select	NP_663624.1:p.Cys125Arg