Canonical Allele Identifier: CA2740718825

Gene: GCNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529591_10529592del , CM000668.2:g.10529591_10529592del	GRCh38
NC_000006.11:g.10529824_10529825del , CM000668.1:g.10529824_10529825del	GRCh37
NC_000006.10:g.10637810_10637811del	NCBI36
NG_007469.3:g.42369_42370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+750_484+751del
ENST00000495262.7:c.680_681del MANE Select	ENSP00000419411.2:p.Gly227AlafsTer3
ENST00000379597.7:c.680_681del	ENSP00000368917.3:p.Gly227AlafsTer3
ENST00000397423.6:n.484+750_484+751del
ENST00000410107.5:c.67+20433_67+20434del	ENSP00000386321.1:n.67+20433_67+20434del
ENST00000474518.1:n.508+750_508+751del
ENST00000474983.5:n.1257_1258del
ENST00000475577.5:n.254+1931_254+1932del
ENST00000483204.1:n.1256_1257del
ENST00000489225.5:n.283+36660_283+36661del
ENST00000489819.5:n.175+7997_175+7998del
ENST00000495262.5:c.680_681del	ENSP00000419411.1:p.Gly227AlafsTer3
NM_145649.4:c.680_681del	NP_663624.1:p.Gly227AlafsTer3
XM_005248999.2:c.449_450del	XP_005249056.1:p.Gly150AlafsTer3
XM_006715052.2:c.680_681del	XP_006715115.1:p.Gly227AlafsTer3
XM_006715053.2:c.680_681del	XP_006715116.1:p.Gly227AlafsTer3
XM_011514465.1:c.680_681del	XP_011512767.1:p.Gly227AlafsTer3
XM_011514467.1:c.449_450del	XP_011512769.1:p.Gly150AlafsTer3
XM_011514468.1:c.680_681del	XP_011512770.1:p.Gly227AlafsTer3
XR_926136.1:n.1231_1232del
XM_006715052.3:c.680_681del	XP_006715115.1:p.Gly227AlafsTer3
XM_011514468.3:c.680_681del	XP_011512770.1:p.Gly227AlafsTer3
XM_017010732.2:c.680_681del	XP_016866221.1:p.Gly227AlafsTer3
XR_002956275.1:n.1231_1232del
XR_926136.2:n.1229_1230del
NM_001374747.1:c.680_681del	NP_001361676.1:p.Gly227AlafsTer3
NM_145649.5:c.680_681del MANE Select	NP_663624.1:p.Gly227AlafsTer3