Canonical Allele Identifier: CA3631687

Gene: GCNT2

Linked Data

• dbSNP Id: rs77950633
• ExAC: 6:10529383 G / A
• gnomAD v2: 6-10529383-G-A
• gnomAD v3: 6-10529150-G-A
• gnomAD v4: 6-10529150-G-A
• MyVariant Identifiers: chr6:g.10529383G>A (hg19) ; chr6:g.10529150G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529150G>A , CM000668.2:g.10529150G>A	GRCh38
NC_000006.11:g.10529383G>A , CM000668.1:g.10529383G>A	GRCh37
NC_000006.10:g.10637369G>A	NCBI36
NG_007469.3:g.41928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+309G>A
ENST00000483204.2:n.815G>A
ENST00000495262.7:c.239G>A MANE Select	ENSP00000419411.2:p.Arg80Gln
ENST00000379597.7:c.239G>A	ENSP00000368917.3:p.Arg80Gln
ENST00000397423.6:n.484+309G>A
ENST00000410107.5:c.67+19992G>A	ENSP00000386321.1:n.67+19992G>A
ENST00000474518.1:n.508+309G>A
ENST00000474983.5:n.816G>A
ENST00000475577.5:n.254+1490G>A
ENST00000483204.1:n.815G>A
ENST00000489225.5:n.283+36219G>A
ENST00000489819.5:n.175+7556G>A
ENST00000495262.5:c.239G>A	ENSP00000419411.1:p.Arg80Gln
NM_145649.4:c.239G>A	NP_663624.1:p.Arg80Gln
XM_005248999.2:c.8G>A	XP_005249056.1:p.Arg3Gln
XM_006715052.2:c.239G>A	XP_006715115.1:p.Arg80Gln
XM_006715053.2:c.239G>A	XP_006715116.1:p.Arg80Gln
XM_011514465.1:c.239G>A	XP_011512767.1:p.Arg80Gln
XM_011514467.1:c.8G>A	XP_011512769.1:p.Arg3Gln
XM_011514468.1:c.239G>A	XP_011512770.1:p.Arg80Gln
XR_926136.1:n.790G>A
XM_006715052.3:c.239G>A	XP_006715115.1:p.Arg80Gln
XM_011514468.3:c.239G>A	XP_011512770.1:p.Arg80Gln
XM_017010732.2:c.239G>A	XP_016866221.1:p.Arg80Gln
XR_002956275.1:n.790G>A
XR_926136.2:n.788G>A
NM_001374747.1:c.239G>A	NP_001361676.1:p.Arg80Gln
NM_145649.5:c.239G>A MANE Select	NP_663624.1:p.Arg80Gln