Canonical Allele Identifier: CA134083329

Gene: GCNT2

Linked Data

• ClinVar Variation Id: 905577
• ClinVar RCV Id: RCV001154177
• dbSNP Id: rs974874626
• MyVariant Identifiers: chr6:g.10556118C>T (hg19) ; chr6:g.10555885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10555885C>T , CM000668.2:g.10555885C>T	GRCh38
NC_000006.11:g.10556118C>T , CM000668.1:g.10556118C>T	GRCh37
NC_000006.10:g.10664104C>T	NCBI36
NG_007469.3:g.68663C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316170.9:c.-539C>T MANE Plus Clinical	ENSP00000314844.3:n.-539C>T
ENST00000397423.7:n.484+27044C>T
ENST00000495262.7:c.925+26049C>T MANE Select	ENSP00000419411.2:n.925+26049C>T
ENST00000379597.7:c.925+26049C>T	ENSP00000368917.3:n.925+26049C>T
ENST00000397423.6:n.484+27044C>T
ENST00000410107.5:c.67+46727C>T	ENSP00000386321.1:n.67+46727C>T
ENST00000461400.1:n.25+26049C>T
ENST00000474518.1:n.508+27044C>T
ENST00000475577.5:n.254+28225C>T
ENST00000485764.1:n.40+26049C>T
ENST00000489225.5:n.283+62954C>T
ENST00000489819.5:n.175+34291C>T
ENST00000495262.5:c.925+26049C>T	ENSP00000419411.1:n.925+26049C>T
NM_001491.2:c.-539C>T	NP_001482.1:n.-539C>T
NM_145649.4:c.925+26049C>T	NP_663624.1:n.925+26049C>T
XM_005248999.2:c.694+26049C>T	XP_005249056.1:n.694+26049C>T
XM_006715052.2:c.925+26049C>T	XP_006715115.1:n.925+26049C>T
XM_006715053.2:c.977C>T	XP_006715116.1:p.Ala326Val
XM_011514465.1:c.926-17245C>T	XP_011512767.1:n.926-17245C>T
XM_011514467.1:c.694+26049C>T	XP_011512769.1:n.694+26049C>T
XR_926136.1:n.1476+26049C>T
XM_006715052.3:c.925+26049C>T	XP_006715115.1:n.925+26049C>T
XR_002956275.1:n.1476+26049C>T
XR_926136.2:n.1474+26049C>T
NM_001374747.1:c.925+26049C>T	NP_001361676.1:n.925+26049C>T
NM_001491.3:c.-539C>T MANE Plus Clinical	NP_001482.1:n.-539C>T
NM_145649.5:c.925+26049C>T MANE Select	NP_663624.1:n.925+26049C>T