Canonical Allele Identifier: CA3631808

Gene: GCNT2

Linked Data

• dbSNP Id: rs147103060
• ExAC: 6:10529837 C / T
• gnomAD v2: 6-10529837-C-T
• gnomAD v3: 6-10529604-C-T
• gnomAD v4: 6-10529604-C-T
• MyVariant Identifiers: chr6:g.10529837C>T (hg19) ; chr6:g.10529604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529604C>T , CM000668.2:g.10529604C>T	GRCh38
NC_000006.11:g.10529837C>T , CM000668.1:g.10529837C>T	GRCh37
NC_000006.10:g.10637823C>T	NCBI36
NG_007469.3:g.42382C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+763C>T
ENST00000495262.7:c.693C>T MANE Select	ENSP00000419411.2:p.Tyr231=
ENST00000379597.7:c.693C>T	ENSP00000368917.3:p.Tyr231=
ENST00000397423.6:n.484+763C>T
ENST00000410107.5:c.67+20446C>T	ENSP00000386321.1:n.67+20446C>T
ENST00000474518.1:n.508+763C>T
ENST00000474983.5:n.1270C>T
ENST00000475577.5:n.254+1944C>T
ENST00000483204.1:n.1269C>T
ENST00000489225.5:n.283+36673C>T
ENST00000489819.5:n.175+8010C>T
ENST00000495262.5:c.693C>T	ENSP00000419411.1:p.Tyr231=
NM_145649.4:c.693C>T	NP_663624.1:p.Tyr231=
XM_005248999.2:c.462C>T	XP_005249056.1:p.Tyr154=
XM_006715052.2:c.693C>T	XP_006715115.1:p.Tyr231=
XM_006715053.2:c.693C>T	XP_006715116.1:p.Tyr231=
XM_011514465.1:c.693C>T	XP_011512767.1:p.Tyr231=
XM_011514467.1:c.462C>T	XP_011512769.1:p.Tyr154=
XM_011514468.1:c.693C>T	XP_011512770.1:p.Tyr231=
XR_926136.1:n.1244C>T
XM_006715052.3:c.693C>T	XP_006715115.1:p.Tyr231=
XM_011514468.3:c.693C>T	XP_011512770.1:p.Tyr231=
XM_017010732.2:c.693C>T	XP_016866221.1:p.Tyr231=
XR_002956275.1:n.1244C>T
XR_926136.2:n.1242C>T
NM_001374747.1:c.693C>T	NP_001361676.1:p.Tyr231=
NM_145649.5:c.693C>T MANE Select	NP_663624.1:p.Tyr231=