Canonical Allele Identifier: CA134064847

Gene: GCNT2

Linked Data

• dbSNP Id: rs972573195
• gnomAD v4: 6-10529654-C-G
• MyVariant Identifiers: chr6:g.10529887C>G (hg19) ; chr6:g.10529654C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529654C>G , CM000668.2:g.10529654C>G	GRCh38
NC_000006.11:g.10529887C>G , CM000668.1:g.10529887C>G	GRCh37
NC_000006.10:g.10637873C>G	NCBI36
NG_007469.3:g.42432C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+813C>G
ENST00000495262.7:c.743C>G MANE Select	ENSP00000419411.2:p.Thr248Arg
ENST00000379597.7:c.743C>G	ENSP00000368917.3:p.Thr248Arg
ENST00000397423.6:n.484+813C>G
ENST00000410107.5:c.67+20496C>G	ENSP00000386321.1:n.67+20496C>G
ENST00000474518.1:n.508+813C>G
ENST00000474983.5:n.1320C>G
ENST00000475577.5:n.254+1994C>G
ENST00000483204.1:n.1319C>G
ENST00000489225.5:n.283+36723C>G
ENST00000489819.5:n.175+8060C>G
ENST00000495262.5:c.743C>G	ENSP00000419411.1:p.Thr248Arg
NM_145649.4:c.743C>G	NP_663624.1:p.Thr248Arg
XM_005248999.2:c.512C>G	XP_005249056.1:p.Thr171Arg
XM_006715052.2:c.743C>G	XP_006715115.1:p.Thr248Arg
XM_006715053.2:c.743C>G	XP_006715116.1:p.Thr248Arg
XM_011514465.1:c.743C>G	XP_011512767.1:p.Thr248Arg
XM_011514467.1:c.512C>G	XP_011512769.1:p.Thr171Arg
XM_011514468.1:c.743C>G	XP_011512770.1:p.Thr248Arg
XR_926136.1:n.1294C>G
XM_006715052.3:c.743C>G	XP_006715115.1:p.Thr248Arg
XM_011514468.3:c.743C>G	XP_011512770.1:p.Thr248Arg
XM_017010732.2:c.743C>G	XP_016866221.1:p.Thr248Arg
XR_002956275.1:n.1294C>G
XR_926136.2:n.1292C>G
NM_001374747.1:c.743C>G	NP_001361676.1:p.Thr248Arg
NM_145649.5:c.743C>G MANE Select	NP_663624.1:p.Thr248Arg