Canonical Allele Identifier: CA565487612

Gene: GCNT2

Linked Data

• dbSNP Id: rs1176388020
• gnomAD v2: 6-10529627-T-TGG
• gnomAD v3: 6-10529394-T-TGG
• gnomAD v4: 6-10529394-T-TGG
• MyVariant Identifiers: chr6:g.10529627_10529628insGG (hg19) ; chr6:g.10529394_10529395insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529399_10529400dup , CM000668.2:g.10529399_10529400dup	GRCh38
NC_000006.11:g.10529632_10529633dup , CM000668.1:g.10529632_10529633dup	GRCh37
NC_000006.10:g.10637618_10637619dup	NCBI36
NG_007469.3:g.42177_42178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+558_484+559dup
ENST00000495262.7:c.488_489dup MANE Select	ENSP00000419411.2:p.Ile164GlyfsTer9
ENST00000379597.7:c.488_489dup	ENSP00000368917.3:p.Ile164GlyfsTer9
ENST00000397423.6:n.484+558_484+559dup
ENST00000410107.5:c.67+20241_67+20242dup	ENSP00000386321.1:n.67+20241_67+20242dup
ENST00000474518.1:n.508+558_508+559dup
ENST00000474983.5:n.1065_1066dup
ENST00000475577.5:n.254+1739_254+1740dup
ENST00000483204.1:n.1064_1065dup
ENST00000489225.5:n.283+36468_283+36469dup
ENST00000489819.5:n.175+7805_175+7806dup
ENST00000495262.5:c.488_489dup	ENSP00000419411.1:p.Ile164GlyfsTer9
NM_145649.4:c.488_489dup	NP_663624.1:p.Ile164GlyfsTer9
XM_005248999.2:c.257_258dup	XP_005249056.1:p.Ile87GlyfsTer9
XM_006715052.2:c.488_489dup	XP_006715115.1:p.Ile164GlyfsTer9
XM_006715053.2:c.488_489dup	XP_006715116.1:p.Ile164GlyfsTer9
XM_011514465.1:c.488_489dup	XP_011512767.1:p.Ile164GlyfsTer9
XM_011514467.1:c.257_258dup	XP_011512769.1:p.Ile87GlyfsTer9
XM_011514468.1:c.488_489dup	XP_011512770.1:p.Ile164GlyfsTer9
XR_926136.1:n.1039_1040dup
XM_006715052.3:c.488_489dup	XP_006715115.1:p.Ile164GlyfsTer9
XM_011514468.3:c.488_489dup	XP_011512770.1:p.Ile164GlyfsTer9
XM_017010732.2:c.488_489dup	XP_016866221.1:p.Ile164GlyfsTer9
XR_002956275.1:n.1039_1040dup
XR_926136.2:n.1037_1038dup
NM_001374747.1:c.488_489dup	NP_001361676.1:p.Ile164GlyfsTer9
NM_145649.5:c.488_489dup MANE Select	NP_663624.1:p.Ile164GlyfsTer9