Canonical Allele Identifier: CA3631809

Gene: GCNT2

Linked Data

• ClinVar Variation Id: 2359197
• ClinVar RCV Id: RCV002980189
• dbSNP Id: rs773968312
• ExAC: 6:10529838 G / A
• gnomAD v2: 6-10529838-G-A
• gnomAD v3: 6-10529605-G-A
• gnomAD v4: 6-10529605-G-A
• COSMIC: COSM301182
• MyVariant Identifiers: chr6:g.10529838G>A (hg19) ; chr6:g.10529605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529605G>A , CM000668.2:g.10529605G>A	GRCh38
NC_000006.11:g.10529838G>A , CM000668.1:g.10529838G>A	GRCh37
NC_000006.10:g.10637824G>A	NCBI36
NG_007469.3:g.42383G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+764G>A
ENST00000495262.7:c.694G>A MANE Select	ENSP00000419411.2:p.Val232Ile
ENST00000379597.7:c.694G>A	ENSP00000368917.3:p.Val232Ile
ENST00000397423.6:n.484+764G>A
ENST00000410107.5:c.67+20447G>A	ENSP00000386321.1:n.67+20447G>A
ENST00000474518.1:n.508+764G>A
ENST00000474983.5:n.1271G>A
ENST00000475577.5:n.254+1945G>A
ENST00000483204.1:n.1270G>A
ENST00000489225.5:n.283+36674G>A
ENST00000489819.5:n.175+8011G>A
ENST00000495262.5:c.694G>A	ENSP00000419411.1:p.Val232Ile
NM_145649.4:c.694G>A	NP_663624.1:p.Val232Ile
XM_005248999.2:c.463G>A	XP_005249056.1:p.Val155Ile
XM_006715052.2:c.694G>A	XP_006715115.1:p.Val232Ile
XM_006715053.2:c.694G>A	XP_006715116.1:p.Val232Ile
XM_011514465.1:c.694G>A	XP_011512767.1:p.Val232Ile
XM_011514467.1:c.463G>A	XP_011512769.1:p.Val155Ile
XM_011514468.1:c.694G>A	XP_011512770.1:p.Val232Ile
XR_926136.1:n.1245G>A
XM_006715052.3:c.694G>A	XP_006715115.1:p.Val232Ile
XM_011514468.3:c.694G>A	XP_011512770.1:p.Val232Ile
XM_017010732.2:c.694G>A	XP_016866221.1:p.Val232Ile
XR_002956275.1:n.1245G>A
XR_926136.2:n.1243G>A
NM_001374747.1:c.694G>A	NP_001361676.1:p.Val232Ile
NM_145649.5:c.694G>A MANE Select	NP_663624.1:p.Val232Ile