Canonical Allele Identifier: CA134083280
Gene: GCNT2 HGNC NCBI

Linked Data

dbSNP Id: rs1021924876
gnomAD v3: 6-10555860-T-C
gnomAD v4: 6-10555860-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10555860T>C , CM000668.2:g.10555860T>C GRCh38
NC_000006.11:g.10556093T>C , CM000668.1:g.10556093T>C GRCh37
NC_000006.10:g.10664079T>C NCBI36
NG_007469.3:g.68638T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316170.9:c.-564T>C MANE Plus Clinical ENSP00000314844.3:n.-564T>C
ENST00000397423.7:n.484+27019T>C
ENST00000495262.7:c.925+26024T>C MANE Select ENSP00000419411.2:n.925+26024T>C
ENST00000379597.7:c.925+26024T>C ENSP00000368917.3:n.925+26024T>C
ENST00000397423.6:n.484+27019T>C
ENST00000410107.5:c.67+46702T>C ENSP00000386321.1:n.67+46702T>C
ENST00000461400.1:n.25+26024T>C
ENST00000474518.1:n.508+27019T>C
ENST00000475577.5:n.254+28200T>C
ENST00000485764.1:n.40+26024T>C
ENST00000489225.5:n.283+62929T>C
ENST00000489819.5:n.175+34266T>C
ENST00000495262.5:c.925+26024T>C ENSP00000419411.1:n.925+26024T>C
NM_001491.2:c.-564T>C NP_001482.1:n.-564T>C
NM_145649.4:c.925+26024T>C NP_663624.1:n.925+26024T>C
XM_005248999.2:c.694+26024T>C XP_005249056.1:n.694+26024T>C
XM_006715052.2:c.925+26024T>C XP_006715115.1:n.925+26024T>C
XM_006715053.2:c.952T>C XP_006715116.1:p.Tyr318His
XM_011514465.1:c.926-17270T>C XP_011512767.1:n.926-17270T>C
XM_011514467.1:c.694+26024T>C XP_011512769.1:n.694+26024T>C
XR_926136.1:n.1476+26024T>C
XM_006715052.3:c.925+26024T>C XP_006715115.1:n.925+26024T>C
XR_002956275.1:n.1476+26024T>C
XR_926136.2:n.1474+26024T>C
NM_001374747.1:c.925+26024T>C NP_001361676.1:n.925+26024T>C
NM_001491.3:c.-564T>C MANE Plus Clinical NP_001482.1:n.-564T>C
NM_145649.5:c.925+26024T>C MANE Select NP_663624.1:n.925+26024T>C