Canonical Allele Identifier: CA134064425

Gene: GCNT2

Linked Data

• dbSNP Id: rs758458553
• gnomAD v2: 6-10529543-G-GGA
• gnomAD v3: 6-10529310-G-GGA
• gnomAD v4: 6-10529310-G-GGA
• MyVariant Identifiers: chr6:g.10529543_10529544insGA (hg19) ; chr6:g.10529310_10529311insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529311_10529312dup , CM000668.2:g.10529311_10529312dup	GRCh38
NC_000006.11:g.10529544_10529545dup , CM000668.1:g.10529544_10529545dup	GRCh37
NC_000006.10:g.10637530_10637531dup	NCBI36
NG_007469.3:g.42089_42090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+470_484+471dup
ENST00000495262.7:c.400_401dup MANE Select	ENSP00000419411.2:p.Asp134GlufsTer8
ENST00000379597.7:c.400_401dup	ENSP00000368917.3:p.Asp134GlufsTer8
ENST00000397423.6:n.484+470_484+471dup
ENST00000410107.5:c.67+20153_67+20154dup	ENSP00000386321.1:n.67+20153_67+20154dup
ENST00000474518.1:n.508+470_508+471dup
ENST00000474983.5:n.977_978dup
ENST00000475577.5:n.254+1651_254+1652dup
ENST00000483204.1:n.976_977dup
ENST00000489225.5:n.283+36380_283+36381dup
ENST00000489819.5:n.175+7717_175+7718dup
ENST00000495262.5:c.400_401dup	ENSP00000419411.1:p.Asp134GlufsTer8
NM_145649.4:c.400_401dup	NP_663624.1:p.Asp134GlufsTer8
XM_005248999.2:c.169_170dup	XP_005249056.1:p.Asp57GlufsTer8
XM_006715052.2:c.400_401dup	XP_006715115.1:p.Asp134GlufsTer8
XM_006715053.2:c.400_401dup	XP_006715116.1:p.Asp134GlufsTer8
XM_011514465.1:c.400_401dup	XP_011512767.1:p.Asp134GlufsTer8
XM_011514467.1:c.169_170dup	XP_011512769.1:p.Asp57GlufsTer8
XM_011514468.1:c.400_401dup	XP_011512770.1:p.Asp134GlufsTer8
XR_926136.1:n.951_952dup
XM_006715052.3:c.400_401dup	XP_006715115.1:p.Asp134GlufsTer8
XM_011514468.3:c.400_401dup	XP_011512770.1:p.Asp134GlufsTer8
XM_017010732.2:c.400_401dup	XP_016866221.1:p.Asp134GlufsTer8
XR_002956275.1:n.951_952dup
XR_926136.2:n.949_950dup
NM_001374747.1:c.400_401dup	NP_001361676.1:p.Asp134GlufsTer8
NM_145649.5:c.400_401dup MANE Select	NP_663624.1:p.Asp134GlufsTer8