Canonical Allele Identifier: CA2677293114

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529420-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529422del , CM000668.2:g.10529422del	GRCh38
NC_000006.11:g.10529655del , CM000668.1:g.10529655del	GRCh37
NC_000006.10:g.10637641del	NCBI36
NG_007469.3:g.42200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+581del
ENST00000495262.7:c.511del MANE Select	ENSP00000419411.2:p.Leu171Ter
ENST00000379597.7:c.511del	ENSP00000368917.3:p.Leu171Ter
ENST00000397423.6:n.484+581del
ENST00000410107.5:c.67+20264del	ENSP00000386321.1:n.67+20264del
ENST00000474518.1:n.508+581del
ENST00000474983.5:n.1088del
ENST00000475577.5:n.254+1762del
ENST00000483204.1:n.1087del
ENST00000489225.5:n.283+36491del
ENST00000489819.5:n.175+7828del
ENST00000495262.5:c.511del	ENSP00000419411.1:p.Leu171Ter
NM_145649.4:c.511del	NP_663624.1:p.Leu171Ter
XM_005248999.2:c.280del	XP_005249056.1:p.Leu94Ter
XM_006715052.2:c.511del	XP_006715115.1:p.Leu171Ter
XM_006715053.2:c.511del	XP_006715116.1:p.Leu171Ter
XM_011514465.1:c.511del	XP_011512767.1:p.Leu171Ter
XM_011514467.1:c.280del	XP_011512769.1:p.Leu94Ter
XM_011514468.1:c.511del	XP_011512770.1:p.Leu171Ter
XR_926136.1:n.1062del
XM_006715052.3:c.511del	XP_006715115.1:p.Leu171Ter
XM_011514468.3:c.511del	XP_011512770.1:p.Leu171Ter
XM_017010732.2:c.511del	XP_016866221.1:p.Leu171Ter
XR_002956275.1:n.1062del
XR_926136.2:n.1060del
NM_001374747.1:c.511del	NP_001361676.1:p.Leu171Ter
NM_145649.5:c.511del MANE Select	NP_663624.1:p.Leu171Ter