Canonical Allele Identifier: CA362709679

Gene: GCNT2

Linked Data

• MyVariant Identifiers: chr6:g.10530042T>G (hg19) ; chr6:g.10529809T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529809T>G , CM000668.2:g.10529809T>G	GRCh38
NC_000006.11:g.10530042T>G , CM000668.1:g.10530042T>G	GRCh37
NC_000006.10:g.10638028T>G	NCBI36
NG_007469.3:g.42587T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+968T>G
ENST00000495262.7:c.898T>G MANE Select	ENSP00000419411.2:p.Phe300Val
ENST00000379597.7:c.898T>G	ENSP00000368917.3:p.Phe300Val
ENST00000397423.6:n.484+968T>G
ENST00000410107.5:c.67+20651T>G	ENSP00000386321.1:n.67+20651T>G
ENST00000474518.1:n.508+968T>G
ENST00000474983.5:n.1475T>G
ENST00000475577.5:n.254+2149T>G
ENST00000483204.1:n.1474T>G
ENST00000485764.1:n.13T>G
ENST00000489225.5:n.283+36878T>G
ENST00000489819.5:n.175+8215T>G
ENST00000495262.5:c.898T>G	ENSP00000419411.1:p.Phe300Val
NM_145649.4:c.898T>G	NP_663624.1:p.Phe300Val
XM_005248999.2:c.667T>G	XP_005249056.1:p.Phe223Val
XM_006715052.2:c.898T>G	XP_006715115.1:p.Phe300Val
XM_006715053.2:c.898T>G	XP_006715116.1:p.Phe300Val
XM_011514465.1:c.898T>G	XP_011512767.1:p.Phe300Val
XM_011514467.1:c.667T>G	XP_011512769.1:p.Phe223Val
XM_011514468.1:c.898T>G	XP_011512770.1:p.Phe300Val
XR_926136.1:n.1449T>G
XM_006715052.3:c.898T>G	XP_006715115.1:p.Phe300Val
XM_011514468.3:c.898T>G	XP_011512770.1:p.Phe300Val
XM_017010732.2:c.898T>G	XP_016866221.1:p.Phe300Val
XR_002956275.1:n.1449T>G
XR_926136.2:n.1447T>G
NM_001374747.1:c.898T>G	NP_001361676.1:p.Phe300Val
NM_145649.5:c.898T>G MANE Select	NP_663624.1:p.Phe300Val