Canonical Allele Identifier: CA362707501

Gene: GCNT2

Linked Data

• COSMIC: COSM1696919
• MyVariant Identifiers: chr6:g.10529532C>T (hg19) ; chr6:g.10529299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10529299C>T , CM000668.2:g.10529299C>T	GRCh38
NC_000006.11:g.10529532C>T , CM000668.1:g.10529532C>T	GRCh37
NC_000006.10:g.10637518C>T	NCBI36
NG_007469.3:g.42077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397423.7:n.484+458C>T
ENST00000495262.7:c.388C>T MANE Select	ENSP00000419411.2:p.Gln130Ter
ENST00000379597.7:c.388C>T	ENSP00000368917.3:p.Gln130Ter
ENST00000397423.6:n.484+458C>T
ENST00000410107.5:c.67+20141C>T	ENSP00000386321.1:n.67+20141C>T
ENST00000474518.1:n.508+458C>T
ENST00000474983.5:n.965C>T
ENST00000475577.5:n.254+1639C>T
ENST00000483204.1:n.964C>T
ENST00000489225.5:n.283+36368C>T
ENST00000489819.5:n.175+7705C>T
ENST00000495262.5:c.388C>T	ENSP00000419411.1:p.Gln130Ter
NM_145649.4:c.388C>T	NP_663624.1:p.Gln130Ter
XM_005248999.2:c.157C>T	XP_005249056.1:p.Gln53Ter
XM_006715052.2:c.388C>T	XP_006715115.1:p.Gln130Ter
XM_006715053.2:c.388C>T	XP_006715116.1:p.Gln130Ter
XM_011514465.1:c.388C>T	XP_011512767.1:p.Gln130Ter
XM_011514467.1:c.157C>T	XP_011512769.1:p.Gln53Ter
XM_011514468.1:c.388C>T	XP_011512770.1:p.Gln130Ter
XR_926136.1:n.939C>T
XM_006715052.3:c.388C>T	XP_006715115.1:p.Gln130Ter
XM_011514468.3:c.388C>T	XP_011512770.1:p.Gln130Ter
XM_017010732.2:c.388C>T	XP_016866221.1:p.Gln130Ter
XR_002956275.1:n.939C>T
XR_926136.2:n.937C>T
NM_001374747.1:c.388C>T	NP_001361676.1:p.Gln130Ter
NM_145649.5:c.388C>T MANE Select	NP_663624.1:p.Gln130Ter