Canonical Allele Identifier: CA1085932570
Gene: GCNT2 HGNC NCBI

Linked Data

dbSNP Id: rs1762686007
gnomAD v3: 6-10556072-G-A
gnomAD v4: 6-10556072-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10556072G>A , CM000668.2:g.10556072G>A GRCh38
NC_000006.11:g.10556305G>A , CM000668.1:g.10556305G>A GRCh37
NC_000006.10:g.10664291G>A NCBI36
NG_007469.3:g.68850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316170.9:c.-352G>A MANE Plus Clinical ENSP00000314844.3:n.-352G>A
ENST00000397423.7:n.484+27231G>A
ENST00000495262.7:c.925+26236G>A MANE Select ENSP00000419411.2:n.925+26236G>A
ENST00000316170.7:c.-352G>A ENSP00000314844.3:n.-352G>A
ENST00000379597.7:c.925+26236G>A ENSP00000368917.3:n.925+26236G>A
ENST00000397423.6:n.484+27231G>A
ENST00000410107.5:c.67+46914G>A ENSP00000386321.1:n.67+46914G>A
ENST00000461400.1:n.25+26236G>A
ENST00000474518.1:n.508+27231G>A
ENST00000475577.5:n.254+28412G>A
ENST00000485764.1:n.40+26236G>A
ENST00000489225.5:n.283+63141G>A
ENST00000489819.5:n.175+34478G>A
ENST00000495262.5:c.925+26236G>A ENSP00000419411.1:n.925+26236G>A
NM_001491.2:c.-352G>A NP_001482.1:n.-352G>A
NM_145649.4:c.925+26236G>A NP_663624.1:n.925+26236G>A
XM_005248997.2:c.-352G>A XP_005249054.1:n.-352G>A
XM_005248999.2:c.694+26236G>A XP_005249056.1:n.694+26236G>A
XM_006715052.2:c.925+26236G>A XP_006715115.1:n.925+26236G>A
XM_006715053.2:c.*114G>A XP_006715116.1:n.*114G>A
XM_011514465.1:c.926-17058G>A XP_011512767.1:n.926-17058G>A
XM_011514467.1:c.694+26236G>A XP_011512769.1:n.694+26236G>A
XR_926136.1:n.1476+26236G>A
XM_005248997.3:c.-352G>A XP_005249054.1:n.-352G>A
XM_006715052.3:c.925+26236G>A XP_006715115.1:n.925+26236G>A
XR_002956275.1:n.1476+26236G>A
XR_926136.2:n.1474+26236G>A
NM_001374747.1:c.925+26236G>A NP_001361676.1:n.925+26236G>A
NM_001491.3:c.-352G>A MANE Plus Clinical NP_001482.1:n.-352G>A
NM_145649.5:c.925+26236G>A MANE Select NP_663624.1:n.925+26236G>A