Canonical Allele Identifier: CA565487613

Gene: GCNT2

Linked Data

• dbSNP Id: rs1561777869
• gnomAD v2: 6-10529635-T-TCTCCAGG
• gnomAD v4: 6-10529402-T-TCTCCAGG
• MyVariant Identifiers: chr6:g.10529635_10529636insCTCCAGG (hg19) ; chr6:g.10529402_10529403insCTCCAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529412_10529418dup , CM000668.2:g.10529412_10529418dup	GRCh38
NC_000006.11:g.10529645_10529651dup , CM000668.1:g.10529645_10529651dup	GRCh37
NC_000006.10:g.10637631_10637637dup	NCBI36
NG_007469.3:g.42190_42196dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+571_484+577dup
ENST00000495262.7:c.501_507dup MANE Select	ENSP00000419411.2:p.Asp170ProfsTer3
ENST00000379597.7:c.501_507dup	ENSP00000368917.3:p.Asp170ProfsTer3
ENST00000397423.6:n.484+571_484+577dup
ENST00000410107.5:c.67+20254_67+20260dup	ENSP00000386321.1:n.67+20254_67+20260dup
ENST00000474518.1:n.508+571_508+577dup
ENST00000474983.5:n.1078_1084dup
ENST00000475577.5:n.254+1752_254+1758dup
ENST00000483204.1:n.1077_1083dup
ENST00000489225.5:n.283+36481_283+36487dup
ENST00000489819.5:n.175+7818_175+7824dup
ENST00000495262.5:c.501_507dup	ENSP00000419411.1:p.Asp170ProfsTer3
NM_145649.4:c.501_507dup	NP_663624.1:p.Asp170ProfsTer3
XM_005248999.2:c.270_276dup	XP_005249056.1:p.Asp93ProfsTer3
XM_006715052.2:c.501_507dup	XP_006715115.1:p.Asp170ProfsTer3
XM_006715053.2:c.501_507dup	XP_006715116.1:p.Asp170ProfsTer3
XM_011514465.1:c.501_507dup	XP_011512767.1:p.Asp170ProfsTer3
XM_011514467.1:c.270_276dup	XP_011512769.1:p.Asp93ProfsTer3
XM_011514468.1:c.501_507dup	XP_011512770.1:p.Asp170ProfsTer3
XR_926136.1:n.1052_1058dup
XM_006715052.3:c.501_507dup	XP_006715115.1:p.Asp170ProfsTer3
XM_011514468.3:c.501_507dup	XP_011512770.1:p.Asp170ProfsTer3
XM_017010732.2:c.501_507dup	XP_016866221.1:p.Asp170ProfsTer3
XR_002956275.1:n.1052_1058dup
XR_926136.2:n.1050_1056dup
NM_001374747.1:c.501_507dup	NP_001361676.1:p.Asp170ProfsTer3
NM_145649.5:c.501_507dup MANE Select	NP_663624.1:p.Asp170ProfsTer3