Canonical Allele Identifier: CA565487609

Gene: GCNT2

Linked Data

• dbSNP Id: rs1291698877
• gnomAD v2: 6-10529887-CAA-C
• gnomAD v3: 6-10529654-CAA-C
• gnomAD v4: 6-10529654-CAA-C
• MyVariant Identifiers: chr6:g.10529888_10529889del (hg19) ; chr6:g.10529655_10529656del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529657_10529658del , CM000668.2:g.10529657_10529658del	GRCh38
NC_000006.11:g.10529890_10529891del , CM000668.1:g.10529890_10529891del	GRCh37
NC_000006.10:g.10637876_10637877del	NCBI36
NG_007469.3:g.42435_42436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+816_484+817del
ENST00000495262.7:c.746_747del MANE Select	ENSP00000419411.2:p.Lys249IlefsTer8
ENST00000379597.7:c.746_747del	ENSP00000368917.3:p.Lys249IlefsTer8
ENST00000397423.6:n.484+816_484+817del
ENST00000410107.5:c.67+20499_67+20500del	ENSP00000386321.1:n.67+20499_67+20500del
ENST00000474518.1:n.508+816_508+817del
ENST00000474983.5:n.1323_1324del
ENST00000475577.5:n.254+1997_254+1998del
ENST00000483204.1:n.1322_1323del
ENST00000489225.5:n.283+36726_283+36727del
ENST00000489819.5:n.175+8063_175+8064del
ENST00000495262.5:c.746_747del	ENSP00000419411.1:p.Lys249IlefsTer8
NM_145649.4:c.746_747del	NP_663624.1:p.Lys249IlefsTer8
XM_005248999.2:c.515_516del	XP_005249056.1:p.Lys172IlefsTer8
XM_006715052.2:c.746_747del	XP_006715115.1:p.Lys249IlefsTer8
XM_006715053.2:c.746_747del	XP_006715116.1:p.Lys249IlefsTer8
XM_011514465.1:c.746_747del	XP_011512767.1:p.Lys249IlefsTer8
XM_011514467.1:c.515_516del	XP_011512769.1:p.Lys172IlefsTer8
XM_011514468.1:c.746_747del	XP_011512770.1:p.Lys249IlefsTer8
XR_926136.1:n.1297_1298del
XM_006715052.3:c.746_747del	XP_006715115.1:p.Lys249IlefsTer8
XM_011514468.3:c.746_747del	XP_011512770.1:p.Lys249IlefsTer8
XM_017010732.2:c.746_747del	XP_016866221.1:p.Lys249IlefsTer8
XR_002956275.1:n.1297_1298del
XR_926136.2:n.1295_1296del
NM_001374747.1:c.746_747del	NP_001361676.1:p.Lys249IlefsTer8
NM_145649.5:c.746_747del MANE Select	NP_663624.1:p.Lys249IlefsTer8