Canonical Allele Identifier: CA134083117

Gene: GCNT2

Linked Data

• dbSNP Id: rs534466282
• gnomAD v2: 6-10555886-CAG-C
• gnomAD v3: 6-10555653-CAG-C
• gnomAD v4: 6-10555653-CAG-C
• MyVariant Identifiers: chr6:g.10555887_10555888del (hg19) ; chr6:g.10555654_10555655del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10555656_10555657del , CM000668.2:g.10555656_10555657del	GRCh38
NC_000006.11:g.10555889_10555890del , CM000668.1:g.10555889_10555890del	GRCh37
NC_000006.10:g.10663875_10663876del	NCBI36
NG_007469.3:g.68434_68435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+26815_484+26816del
ENST00000495262.7:c.925+25820_925+25821del MANE Select	ENSP00000419411.2:n.925+25820_925+25821del
ENST00000379597.7:c.925+25820_925+25821del	ENSP00000368917.3:n.925+25820_925+25821del
ENST00000397423.6:n.484+26815_484+26816del
ENST00000410107.5:c.67+46498_67+46499del	ENSP00000386321.1:n.67+46498_67+46499del
ENST00000461400.1:n.25+25820_25+25821del
ENST00000474518.1:n.508+26815_508+26816del
ENST00000475577.5:n.254+27996_254+27997del
ENST00000485764.1:n.40+25820_40+25821del
ENST00000489225.5:n.283+62725_283+62726del
ENST00000489819.5:n.175+34062_175+34063del
ENST00000495262.5:c.925+25820_925+25821del	ENSP00000419411.1:n.925+25820_925+25821del
NM_145649.4:c.925+25820_925+25821del	NP_663624.1:n.925+25820_925+25821del
XM_005248999.2:c.694+25820_694+25821del	XP_005249056.1:n.694+25820_694+25821del
XM_006715052.2:c.925+25820_925+25821del	XP_006715115.1:n.925+25820_925+25821del
XM_006715053.2:c.926-178_926-177del	XP_006715116.1:n.926-178_926-177del
XM_011514465.1:c.926-17474_926-17473del	XP_011512767.1:n.926-17474_926-17473del
XM_011514467.1:c.694+25820_694+25821del	XP_011512769.1:n.694+25820_694+25821del
XR_926136.1:n.1476+25820_1476+25821del
XM_006715052.3:c.925+25820_925+25821del	XP_006715115.1:n.925+25820_925+25821del
XR_002956275.1:n.1476+25820_1476+25821del
XR_926136.2:n.1474+25820_1474+25821del
NM_001374747.1:c.925+25820_925+25821del	NP_001361676.1:n.925+25820_925+25821del
NM_145649.5:c.925+25820_925+25821del MANE Select	NP_663624.1:n.925+25820_925+25821del