Canonical Allele Identifier: CA3631944

Gene: GCNT2

Linked Data

• dbSNP Id: rs750703865
• ExAC: 6:10556825 C / A
• gnomAD v2: 6-10556825-C-A
• gnomAD v3: 6-10556592-C-A
• gnomAD v4: 6-10556592-C-A
• MyVariant Identifiers: chr6:g.10556825C>A (hg19) ; chr6:g.10556592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10556592C>A , CM000668.2:g.10556592C>A	GRCh38
NC_000006.11:g.10556825C>A , CM000668.1:g.10556825C>A	GRCh37
NC_000006.10:g.10664811C>A	NCBI36
NG_007469.3:g.69370C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316170.9:c.169C>A MANE Plus Clinical	ENSP00000314844.3:p.Arg57Ser
ENST00000397423.7:n.484+27751C>A
ENST00000495262.7:c.925+26756C>A MANE Select	ENSP00000419411.2:n.925+26756C>A
ENST00000640968.1:c.169C>A	ENSP00000492466.1:p.Arg57Ser
ENST00000316170.7:c.169C>A	ENSP00000314844.3:p.Arg57Ser
ENST00000379597.7:c.925+26756C>A	ENSP00000368917.3:n.925+26756C>A
ENST00000397423.6:n.484+27751C>A
ENST00000410107.5:c.67+47434C>A	ENSP00000386321.1:n.67+47434C>A
ENST00000461400.1:n.25+26756C>A
ENST00000474518.1:n.508+27751C>A
ENST00000475577.5:n.254+28932C>A
ENST00000485764.1:n.40+26756C>A
ENST00000489225.5:n.283+63661C>A
ENST00000489819.5:n.175+34998C>A
ENST00000495262.5:c.925+26756C>A	ENSP00000419411.1:n.925+26756C>A
NM_001491.2:c.169C>A	NP_001482.1:p.Arg57Ser
NM_145649.4:c.925+26756C>A	NP_663624.1:n.925+26756C>A
XM_005248997.2:c.169C>A	XP_005249054.1:p.Arg57Ser
XM_005248999.2:c.694+26756C>A	XP_005249056.1:n.694+26756C>A
XM_006715052.2:c.925+26756C>A	XP_006715115.1:n.925+26756C>A
XM_011514465.1:c.926-16538C>A	XP_011512767.1:n.926-16538C>A
XM_011514467.1:c.694+26756C>A	XP_011512769.1:n.694+26756C>A
XR_926136.1:n.1476+26756C>A
XM_005248997.3:c.169C>A	XP_005249054.1:p.Arg57Ser
XM_006715052.3:c.925+26756C>A	XP_006715115.1:n.925+26756C>A
XR_002956275.1:n.1476+26756C>A
XR_926136.2:n.1474+26756C>A
NM_001374747.1:c.925+26756C>A	NP_001361676.1:n.925+26756C>A
NM_001491.3:c.169C>A MANE Plus Clinical	NP_001482.1:p.Arg57Ser
NM_145649.5:c.925+26756C>A MANE Select	NP_663624.1:n.925+26756C>A