Canonical Allele Identifier: CA448718058

Gene: GCNT2

Linked Data

• gnomAD v4: 6-10529343-C-A
• MyVariant Identifiers: chr6:g.10529576C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529343C>A , CM000668.2:g.10529343C>A	GRCh38
NC_000006.11:g.10529576C>A , CM000668.1:g.10529576C>A	GRCh37
NC_000006.10:g.10637562C>A	NCBI36
NG_007469.3:g.42121C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+502C>A
ENST00000495262.7:c.432C>A MANE Select	ENSP00000419411.2:p.Leu144=
ENST00000379597.7:c.432C>A	ENSP00000368917.3:p.Leu144=
ENST00000397423.6:n.484+502C>A
ENST00000410107.5:c.67+20185C>A	ENSP00000386321.1:n.67+20185C>A
ENST00000474518.1:n.508+502C>A
ENST00000474983.5:n.1009C>A
ENST00000475577.5:n.254+1683C>A
ENST00000483204.1:n.1008C>A
ENST00000489225.5:n.283+36412C>A
ENST00000489819.5:n.175+7749C>A
ENST00000495262.5:c.432C>A	ENSP00000419411.1:p.Leu144=
NM_145649.4:c.432C>A	NP_663624.1:p.Leu144=
XM_005248999.2:c.201C>A	XP_005249056.1:p.Leu67=
XM_006715052.2:c.432C>A	XP_006715115.1:p.Leu144=
XM_006715053.2:c.432C>A	XP_006715116.1:p.Leu144=
XM_011514465.1:c.432C>A	XP_011512767.1:p.Leu144=
XM_011514467.1:c.201C>A	XP_011512769.1:p.Leu67=
XM_011514468.1:c.432C>A	XP_011512770.1:p.Leu144=
XR_926136.1:n.983C>A
XM_006715052.3:c.432C>A	XP_006715115.1:p.Leu144=
XM_011514468.3:c.432C>A	XP_011512770.1:p.Leu144=
XM_017010732.2:c.432C>A	XP_016866221.1:p.Leu144=
XR_002956275.1:n.983C>A
XR_926136.2:n.981C>A
NM_001374747.1:c.432C>A	NP_001361676.1:p.Leu144=
NM_145649.5:c.432C>A MANE Select	NP_663624.1:p.Leu144=