Canonical Allele Identifier: CA3631692

Gene: GCNT2

Linked Data

• dbSNP Id: rs777607687
• ExAC: 6:10529405 ACT / A
• gnomAD v2: 6-10529405-ACT-A
• gnomAD v4: 6-10529172-ACT-A
• MyVariant Identifiers: chr6:g.10529406_10529407del (hg19) ; chr6:g.10529174_10529175del (hg38) ; chr6:g.10529173_10529174del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529177_10529178del , CM000668.2:g.10529177_10529178del	GRCh38
NC_000006.11:g.10529410_10529411del , CM000668.1:g.10529410_10529411del	GRCh37
NC_000006.10:g.10637396_10637397del	NCBI36
NG_007469.3:g.41955_41956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+336_484+337del
ENST00000483204.2:n.842_843del
ENST00000495262.7:c.266_267del MANE Select	ENSP00000419411.2:p.Ser89Ter
ENST00000379597.7:c.266_267del	ENSP00000368917.3:p.Ser89Ter
ENST00000397423.6:n.484+336_484+337del
ENST00000410107.5:c.67+20019_67+20020del	ENSP00000386321.1:n.67+20019_67+20020del
ENST00000474518.1:n.508+336_508+337del
ENST00000474983.5:n.843_844del
ENST00000475577.5:n.254+1517_254+1518del
ENST00000483204.1:n.842_843del
ENST00000489225.5:n.283+36246_283+36247del
ENST00000489819.5:n.175+7583_175+7584del
ENST00000495262.5:c.266_267del	ENSP00000419411.1:p.Ser89Ter
NM_145649.4:c.266_267del	NP_663624.1:p.Ser89Ter
XM_005248999.2:c.35_36del	XP_005249056.1:p.Ser12Ter
XM_006715052.2:c.266_267del	XP_006715115.1:p.Ser89Ter
XM_006715053.2:c.266_267del	XP_006715116.1:p.Ser89Ter
XM_011514465.1:c.266_267del	XP_011512767.1:p.Ser89Ter
XM_011514467.1:c.35_36del	XP_011512769.1:p.Ser12Ter
XM_011514468.1:c.266_267del	XP_011512770.1:p.Ser89Ter
XR_926136.1:n.817_818del
XM_006715052.3:c.266_267del	XP_006715115.1:p.Ser89Ter
XM_011514468.3:c.266_267del	XP_011512770.1:p.Ser89Ter
XM_017010732.2:c.266_267del	XP_016866221.1:p.Ser89Ter
XR_002956275.1:n.817_818del
XR_926136.2:n.815_816del
NM_001374747.1:c.266_267del	NP_001361676.1:p.Ser89Ter
NM_145649.5:c.266_267del MANE Select	NP_663624.1:p.Ser89Ter