Canonical Allele Identifier: CA1610029011

Gene: GCNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529434_10529435delinsGA , CM000668.2:g.10529434_10529435delinsGA	GRCh38
NC_000006.11:g.10529667_10529668delinsGA , CM000668.1:g.10529667_10529668delinsGA	GRCh37
NC_000006.10:g.10637653_10637654delinsGA	NCBI36
NG_007469.3:g.42212_42213delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+593_484+594delinsGA
ENST00000495262.7:c.523_524delinsGA MANE Select	ENSP00000419411.2:p.Glu175=
ENST00000379597.7:c.523_524delinsGA	ENSP00000368917.3:p.Glu175=
ENST00000397423.6:n.484+593_484+594delinsGA
ENST00000410107.5:c.67+20276_67+20277delinsGA	ENSP00000386321.1:n.67+20276_67+20277delinsGA
ENST00000474518.1:n.508+593_508+594delinsGA
ENST00000474983.5:n.1100_1101delinsGA
ENST00000475577.5:n.254+1774_254+1775delinsGA
ENST00000483204.1:n.1099_1100delinsGA
ENST00000489225.5:n.283+36503_283+36504delinsGA
ENST00000489819.5:n.175+7840_175+7841delinsGA
ENST00000495262.5:c.523_524delinsGA	ENSP00000419411.1:p.Glu175=
NM_145649.4:c.523_524delinsGA	NP_663624.1:p.Glu175=
XM_005248999.2:c.292_293delinsGA	XP_005249056.1:p.Glu98=
XM_006715052.2:c.523_524delinsGA	XP_006715115.1:p.Glu175=
XM_006715053.2:c.523_524delinsGA	XP_006715116.1:p.Glu175=
XM_011514465.1:c.523_524delinsGA	XP_011512767.1:p.Glu175=
XM_011514467.1:c.292_293delinsGA	XP_011512769.1:p.Glu98=
XM_011514468.1:c.523_524delinsGA	XP_011512770.1:p.Glu175=
XR_926136.1:n.1074_1075delinsGA
XM_006715052.3:c.523_524delinsGA	XP_006715115.1:p.Glu175=
XM_011514468.3:c.523_524delinsGA	XP_011512770.1:p.Glu175=
XM_017010732.2:c.523_524delinsGA	XP_016866221.1:p.Glu175=
XR_002956275.1:n.1074_1075delinsGA
XR_926136.2:n.1072_1073delinsGA
NM_001374747.1:c.523_524delinsGA	NP_001361676.1:p.Glu175=
NM_145649.5:c.523_524delinsGA MANE Select	NP_663624.1:p.Glu175=