Canonical Allele Identifier: CA565487594

Gene: GCNT2

Linked Data

• dbSNP Id: rs1218669605
• gnomAD v2: 6-10529822-TGGAC-T
• gnomAD v3: 6-10529589-TGGAC-T
• gnomAD v4: 6-10529589-TGGAC-T
• MyVariant Identifiers: chr6:g.10529823_10529826del (hg19) ; chr6:g.10529590_10529593del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529594_10529597del , CM000668.2:g.10529594_10529597del	GRCh38
NC_000006.11:g.10529827_10529830del , CM000668.1:g.10529827_10529830del	GRCh37
NC_000006.10:g.10637813_10637816del	NCBI36
NG_007469.3:g.42372_42375del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397423.7:n.484+753_484+756del
ENST00000495262.7:c.683_686del MANE Select	ENSP00000419411.2:p.Arg228LeufsTer9
ENST00000379597.7:c.683_686del	ENSP00000368917.3:p.Arg228LeufsTer9
ENST00000397423.6:n.484+753_484+756del
ENST00000410107.5:c.67+20436_67+20439del	ENSP00000386321.1:n.67+20436_67+20439del
ENST00000474518.1:n.508+753_508+756del
ENST00000474983.5:n.1260_1263del
ENST00000475577.5:n.254+1934_254+1937del
ENST00000483204.1:n.1259_1262del
ENST00000489225.5:n.283+36663_283+36666del
ENST00000489819.5:n.175+8000_175+8003del
ENST00000495262.5:c.683_686del	ENSP00000419411.1:p.Arg228LeufsTer9
NM_145649.4:c.683_686del	NP_663624.1:p.Arg228LeufsTer9
XM_005248999.2:c.452_455del	XP_005249056.1:p.Arg151LeufsTer9
XM_006715052.2:c.683_686del	XP_006715115.1:p.Arg228LeufsTer9
XM_006715053.2:c.683_686del	XP_006715116.1:p.Arg228LeufsTer9
XM_011514465.1:c.683_686del	XP_011512767.1:p.Arg228LeufsTer9
XM_011514467.1:c.452_455del	XP_011512769.1:p.Arg151LeufsTer9
XM_011514468.1:c.683_686del	XP_011512770.1:p.Arg228LeufsTer9
XR_926136.1:n.1234_1237del
XM_006715052.3:c.683_686del	XP_006715115.1:p.Arg228LeufsTer9
XM_011514468.3:c.683_686del	XP_011512770.1:p.Arg228LeufsTer9
XM_017010732.2:c.683_686del	XP_016866221.1:p.Arg228LeufsTer9
XR_002956275.1:n.1234_1237del
XR_926136.2:n.1232_1235del
NM_001374747.1:c.683_686del	NP_001361676.1:p.Arg228LeufsTer9
NM_145649.5:c.683_686del MANE Select	NP_663624.1:p.Arg228LeufsTer9