Canonical Allele Identifier: CA362709537

Gene: GCNT2

Linked Data

• MyVariant Identifiers: chr6:g.10530013C>T (hg19) ; chr6:g.10529780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529780C>T , CM000668.2:g.10529780C>T	GRCh38
NC_000006.11:g.10530013C>T , CM000668.1:g.10530013C>T	GRCh37
NC_000006.10:g.10637999C>T	NCBI36
NG_007469.3:g.42558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+939C>T
ENST00000495262.7:c.869C>T MANE Select	ENSP00000419411.2:p.Ser290Phe
ENST00000379597.7:c.869C>T	ENSP00000368917.3:p.Ser290Phe
ENST00000397423.6:n.484+939C>T
ENST00000410107.5:c.67+20622C>T	ENSP00000386321.1:n.67+20622C>T
ENST00000474518.1:n.508+939C>T
ENST00000474983.5:n.1446C>T
ENST00000475577.5:n.254+2120C>T
ENST00000483204.1:n.1445C>T
ENST00000489225.5:n.283+36849C>T
ENST00000489819.5:n.175+8186C>T
ENST00000495262.5:c.869C>T	ENSP00000419411.1:p.Ser290Phe
NM_145649.4:c.869C>T	NP_663624.1:p.Ser290Phe
XM_005248999.2:c.638C>T	XP_005249056.1:p.Ser213Phe
XM_006715052.2:c.869C>T	XP_006715115.1:p.Ser290Phe
XM_006715053.2:c.869C>T	XP_006715116.1:p.Ser290Phe
XM_011514465.1:c.869C>T	XP_011512767.1:p.Ser290Phe
XM_011514467.1:c.638C>T	XP_011512769.1:p.Ser213Phe
XM_011514468.1:c.869C>T	XP_011512770.1:p.Ser290Phe
XR_926136.1:n.1420C>T
XM_006715052.3:c.869C>T	XP_006715115.1:p.Ser290Phe
XM_011514468.3:c.869C>T	XP_011512770.1:p.Ser290Phe
XM_017010732.2:c.869C>T	XP_016866221.1:p.Ser290Phe
XR_002956275.1:n.1420C>T
XR_926136.2:n.1418C>T
NM_001374747.1:c.869C>T	NP_001361676.1:p.Ser290Phe
NM_145649.5:c.869C>T MANE Select	NP_663624.1:p.Ser290Phe