Canonical Allele Identifier: CA3631954

Gene: GCNT2

Linked Data

• dbSNP Id: rs769512908
• ExAC: 6:10556862 A / G
• gnomAD v2: 6-10556862-A-G
• gnomAD v3: 6-10556629-A-G
• gnomAD v4: 6-10556629-A-G
• MyVariant Identifiers: chr6:g.10556862A>G (hg19) ; chr6:g.10556629A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10556629A>G , CM000668.2:g.10556629A>G	GRCh38
NC_000006.11:g.10556862A>G , CM000668.1:g.10556862A>G	GRCh37
NC_000006.10:g.10664848A>G	NCBI36
NG_007469.3:g.69407A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316170.9:c.206A>G MANE Plus Clinical	ENSP00000314844.3:p.Lys69Arg
ENST00000397423.7:n.484+27788A>G
ENST00000495262.7:c.925+26793A>G MANE Select	ENSP00000419411.2:n.925+26793A>G
ENST00000640968.1:c.206A>G	ENSP00000492466.1:p.Lys69Arg
ENST00000316170.7:c.206A>G	ENSP00000314844.3:p.Lys69Arg
ENST00000379597.7:c.925+26793A>G	ENSP00000368917.3:n.925+26793A>G
ENST00000397423.6:n.484+27788A>G
ENST00000410107.5:c.67+47471A>G	ENSP00000386321.1:n.67+47471A>G
ENST00000461400.1:n.25+26793A>G
ENST00000474518.1:n.508+27788A>G
ENST00000475577.5:n.254+28969A>G
ENST00000485764.1:n.40+26793A>G
ENST00000489225.5:n.283+63698A>G
ENST00000489819.5:n.175+35035A>G
ENST00000495262.5:c.925+26793A>G	ENSP00000419411.1:n.925+26793A>G
NM_001491.2:c.206A>G	NP_001482.1:p.Lys69Arg
NM_145649.4:c.925+26793A>G	NP_663624.1:n.925+26793A>G
XM_005248997.2:c.206A>G	XP_005249054.1:p.Lys69Arg
XM_005248999.2:c.694+26793A>G	XP_005249056.1:n.694+26793A>G
XM_006715052.2:c.925+26793A>G	XP_006715115.1:n.925+26793A>G
XM_011514465.1:c.926-16501A>G	XP_011512767.1:n.926-16501A>G
XM_011514467.1:c.694+26793A>G	XP_011512769.1:n.694+26793A>G
XR_926136.1:n.1476+26793A>G
XM_005248997.3:c.206A>G	XP_005249054.1:p.Lys69Arg
XM_006715052.3:c.925+26793A>G	XP_006715115.1:n.925+26793A>G
XR_002956275.1:n.1476+26793A>G
XR_926136.2:n.1474+26793A>G
NM_001374747.1:c.925+26793A>G	NP_001361676.1:n.925+26793A>G
NM_001491.3:c.206A>G MANE Plus Clinical	NP_001482.1:p.Lys69Arg
NM_145649.5:c.925+26793A>G MANE Select	NP_663624.1:n.925+26793A>G