Canonical Allele Identifier: CA3631699

Gene: GCNT2

Linked Data

• dbSNP Id: rs746993233
• ExAC: 6:10529427 TTCCCTTTAGCTTAC / T
• gnomAD v2: 6-10529427-TTCCCTTTAGCTTAC-T
• gnomAD v4: 6-10529194-TTCCCTTTAGCTTAC-T
• MyVariant Identifiers: chr6:g.10529428_10529441del (hg19) ; chr6:g.10529195_10529208del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529195_10529208del , CM000668.2:g.10529195_10529208del	GRCh38
NC_000006.11:g.10529428_10529441del , CM000668.1:g.10529428_10529441del	GRCh37
NC_000006.10:g.10637414_10637427del	NCBI36
NG_007469.3:g.41973_41986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+354_484+367del
ENST00000483204.2:n.860_873del
ENST00000495262.7:c.284_297del MANE Select	ENSP00000419411.2:p.Phe95TyrfsTer12
ENST00000379597.7:c.284_297del	ENSP00000368917.3:p.Phe95TyrfsTer12
ENST00000397423.6:n.484+354_484+367del
ENST00000410107.5:c.67+20037_67+20050del	ENSP00000386321.1:n.67+20037_67+20050del
ENST00000474518.1:n.508+354_508+367del
ENST00000474983.5:n.861_874del
ENST00000475577.5:n.254+1535_254+1548del
ENST00000483204.1:n.860_873del
ENST00000489225.5:n.283+36264_283+36277del
ENST00000489819.5:n.175+7601_175+7614del
ENST00000495262.5:c.284_297del	ENSP00000419411.1:p.Phe95TyrfsTer12
NM_145649.4:c.284_297del	NP_663624.1:p.Phe95TyrfsTer12
XM_005248999.2:c.53_66del	XP_005249056.1:p.Phe18TyrfsTer12
XM_006715052.2:c.284_297del	XP_006715115.1:p.Phe95TyrfsTer12
XM_006715053.2:c.284_297del	XP_006715116.1:p.Phe95TyrfsTer12
XM_011514465.1:c.284_297del	XP_011512767.1:p.Phe95TyrfsTer12
XM_011514467.1:c.53_66del	XP_011512769.1:p.Phe18TyrfsTer12
XM_011514468.1:c.284_297del	XP_011512770.1:p.Phe95TyrfsTer12
XR_926136.1:n.835_848del
XM_006715052.3:c.284_297del	XP_006715115.1:p.Phe95TyrfsTer12
XM_011514468.3:c.284_297del	XP_011512770.1:p.Phe95TyrfsTer12
XM_017010732.2:c.284_297del	XP_016866221.1:p.Phe95TyrfsTer12
XR_002956275.1:n.835_848del
XR_926136.2:n.833_846del
NM_001374747.1:c.284_297del	NP_001361676.1:p.Phe95TyrfsTer12
NM_145649.5:c.284_297del MANE Select	NP_663624.1:p.Phe95TyrfsTer12