Canonical Allele Identifier: CA362708099

Gene: GCNT2

Linked Data

• dbSNP Id: rs1761364989
• gnomAD v4: 6-10529410-C-T
• MyVariant Identifiers: chr6:g.10529643C>T (hg19) ; chr6:g.10529410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529410C>T , CM000668.2:g.10529410C>T	GRCh38
NC_000006.11:g.10529643C>T , CM000668.1:g.10529643C>T	GRCh37
NC_000006.10:g.10637629C>T	NCBI36
NG_007469.3:g.42188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+569C>T
ENST00000495262.7:c.499C>T MANE Select	ENSP00000419411.2:p.Leu167Phe
ENST00000379597.7:c.499C>T	ENSP00000368917.3:p.Leu167Phe
ENST00000397423.6:n.484+569C>T
ENST00000410107.5:c.67+20252C>T	ENSP00000386321.1:n.67+20252C>T
ENST00000474518.1:n.508+569C>T
ENST00000474983.5:n.1076C>T
ENST00000475577.5:n.254+1750C>T
ENST00000483204.1:n.1075C>T
ENST00000489225.5:n.283+36479C>T
ENST00000489819.5:n.175+7816C>T
ENST00000495262.5:c.499C>T	ENSP00000419411.1:p.Leu167Phe
NM_145649.4:c.499C>T	NP_663624.1:p.Leu167Phe
XM_005248999.2:c.268C>T	XP_005249056.1:p.Leu90Phe
XM_006715052.2:c.499C>T	XP_006715115.1:p.Leu167Phe
XM_006715053.2:c.499C>T	XP_006715116.1:p.Leu167Phe
XM_011514465.1:c.499C>T	XP_011512767.1:p.Leu167Phe
XM_011514467.1:c.268C>T	XP_011512769.1:p.Leu90Phe
XM_011514468.1:c.499C>T	XP_011512770.1:p.Leu167Phe
XR_926136.1:n.1050C>T
XM_006715052.3:c.499C>T	XP_006715115.1:p.Leu167Phe
XM_011514468.3:c.499C>T	XP_011512770.1:p.Leu167Phe
XM_017010732.2:c.499C>T	XP_016866221.1:p.Leu167Phe
XR_002956275.1:n.1050C>T
XR_926136.2:n.1048C>T
NM_001374747.1:c.499C>T	NP_001361676.1:p.Leu167Phe
NM_145649.5:c.499C>T MANE Select	NP_663624.1:p.Leu167Phe