Canonical Allele Identifier: CA3631680

Gene: GCNT2

Linked Data

• dbSNP Id: rs756306008
• ExAC: 6:10529369 T / C
• gnomAD v2: 6-10529369-T-C
• gnomAD v4: 6-10529136-T-C
• MyVariant Identifiers: chr6:g.10529369T>C (hg19) ; chr6:g.10529136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529136T>C , CM000668.2:g.10529136T>C	GRCh38
NC_000006.11:g.10529369T>C , CM000668.1:g.10529369T>C	GRCh37
NC_000006.10:g.10637355T>C	NCBI36
NG_007469.3:g.41914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+295T>C
ENST00000483204.2:n.801T>C
ENST00000495262.7:c.225T>C MANE Select	ENSP00000419411.2:p.Tyr75=
ENST00000379597.7:c.225T>C	ENSP00000368917.3:p.Tyr75=
ENST00000397423.6:n.484+295T>C
ENST00000410107.5:c.67+19978T>C	ENSP00000386321.1:n.67+19978T>C
ENST00000474518.1:n.508+295T>C
ENST00000474983.5:n.802T>C
ENST00000475577.5:n.254+1476T>C
ENST00000483204.1:n.801T>C
ENST00000489225.5:n.283+36205T>C
ENST00000489819.5:n.175+7542T>C
ENST00000495262.5:c.225T>C	ENSP00000419411.1:p.Tyr75=
NM_145649.4:c.225T>C	NP_663624.1:p.Tyr75=
XM_005248999.2:c.-7T>C	XP_005249056.1:n.-7T>C
XM_006715052.2:c.225T>C	XP_006715115.1:p.Tyr75=
XM_006715053.2:c.225T>C	XP_006715116.1:p.Tyr75=
XM_011514465.1:c.225T>C	XP_011512767.1:p.Tyr75=
XM_011514467.1:c.-7T>C	XP_011512769.1:n.-7T>C
XM_011514468.1:c.225T>C	XP_011512770.1:p.Tyr75=
XR_926136.1:n.776T>C
XM_006715052.3:c.225T>C	XP_006715115.1:p.Tyr75=
XM_011514468.3:c.225T>C	XP_011512770.1:p.Tyr75=
XM_017010732.2:c.225T>C	XP_016866221.1:p.Tyr75=
XR_002956275.1:n.776T>C
XR_926136.2:n.774T>C
NM_001374747.1:c.225T>C	NP_001361676.1:p.Tyr75=
NM_145649.5:c.225T>C MANE Select	NP_663624.1:p.Tyr75=