Canonical Allele Identifier: CA816690400

Gene: GCNT2

Linked Data

• dbSNP Id: rs1310876303
• gnomAD v3: 6-10529237-CT-C
• gnomAD v4: 6-10529237-CT-C
• MyVariant Identifiers: chr6:g.10529471del (hg19) ; chr6:g.10529238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529241del , CM000668.2:g.10529241del	GRCh38
NC_000006.11:g.10529474del , CM000668.1:g.10529474del	GRCh37
NC_000006.10:g.10637460del	NCBI36
NG_007469.3:g.42019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+400del
ENST00000483204.2:n.906del
ENST00000495262.7:c.330del MANE Select	ENSP00000419411.2:p.Phe110LeufsTer?
ENST00000379597.7:c.330del	ENSP00000368917.3:p.Phe110LeufsTer?
ENST00000397423.6:n.484+400del
ENST00000410107.5:c.67+20083del	ENSP00000386321.1:n.67+20083del
ENST00000474518.1:n.508+400del
ENST00000474983.5:n.907del
ENST00000475577.5:n.254+1581del
ENST00000483204.1:n.906del
ENST00000489225.5:n.283+36310del
ENST00000489819.5:n.175+7647del
ENST00000495262.5:c.330del	ENSP00000419411.1:p.Phe110LeufsTer?
NM_145649.4:c.330del	NP_663624.1:p.Phe110LeufsTer?
XM_005248999.2:c.99del	XP_005249056.1:p.Phe33LeufsTer?
XM_006715052.2:c.330del	XP_006715115.1:p.Phe110LeufsTer?
XM_006715053.2:c.330del	XP_006715116.1:p.Phe110LeufsTer?
XM_011514465.1:c.330del	XP_011512767.1:p.Phe110LeufsTer?
XM_011514467.1:c.99del	XP_011512769.1:p.Phe33LeufsTer?
XM_011514468.1:c.330del	XP_011512770.1:p.Phe110LeufsTer?
XR_926136.1:n.881del
XM_006715052.3:c.330del	XP_006715115.1:p.Phe110LeufsTer?
XM_011514468.3:c.330del	XP_011512770.1:p.Phe110LeufsTer?
XM_017010732.2:c.330del	XP_016866221.1:p.Phe110LeufsTer?
XR_002956275.1:n.881del
XR_926136.2:n.879del
NM_001374747.1:c.330del	NP_001361676.1:p.Phe110LeufsTer?
NM_145649.5:c.330del MANE Select	NP_663624.1:p.Phe110LeufsTer?