Canonical Allele Identifier: CA2677293120

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529617-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529619_10529620del , CM000668.2:g.10529619_10529620del	GRCh38
NC_000006.11:g.10529852_10529853del , CM000668.1:g.10529852_10529853del	GRCh37
NC_000006.10:g.10637838_10637839del	NCBI36
NG_007469.3:g.42397_42398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+778_484+779del
ENST00000495262.7:c.708_709del MANE Select	ENSP00000419411.2:p.Leu237LysfsTer9
ENST00000379597.7:c.708_709del	ENSP00000368917.3:p.Leu237LysfsTer9
ENST00000397423.6:n.484+778_484+779del
ENST00000410107.5:c.67+20461_67+20462del	ENSP00000386321.1:n.67+20461_67+20462del
ENST00000474518.1:n.508+778_508+779del
ENST00000474983.5:n.1285_1286del
ENST00000475577.5:n.254+1959_254+1960del
ENST00000483204.1:n.1284_1285del
ENST00000489225.5:n.283+36688_283+36689del
ENST00000489819.5:n.175+8025_175+8026del
ENST00000495262.5:c.708_709del	ENSP00000419411.1:p.Leu237LysfsTer9
NM_145649.4:c.708_709del	NP_663624.1:p.Leu237LysfsTer9
XM_005248999.2:c.477_478del	XP_005249056.1:p.Leu160LysfsTer9
XM_006715052.2:c.708_709del	XP_006715115.1:p.Leu237LysfsTer9
XM_006715053.2:c.708_709del	XP_006715116.1:p.Leu237LysfsTer9
XM_011514465.1:c.708_709del	XP_011512767.1:p.Leu237LysfsTer9
XM_011514467.1:c.477_478del	XP_011512769.1:p.Leu160LysfsTer9
XM_011514468.1:c.708_709del	XP_011512770.1:p.Leu237LysfsTer9
XR_926136.1:n.1259_1260del
XM_006715052.3:c.708_709del	XP_006715115.1:p.Leu237LysfsTer9
XM_011514468.3:c.708_709del	XP_011512770.1:p.Leu237LysfsTer9
XM_017010732.2:c.708_709del	XP_016866221.1:p.Leu237LysfsTer9
XR_002956275.1:n.1259_1260del
XR_926136.2:n.1257_1258del
NM_001374747.1:c.708_709del	NP_001361676.1:p.Leu237LysfsTer9
NM_145649.5:c.708_709del MANE Select	NP_663624.1:p.Leu237LysfsTer9