Canonical Allele Identifier: CA134064775
Gene: GCNT2 HGNC NCBI

Linked Data

dbSNP Id: rs888354864
gnomAD v2: 6-10529809-C-T
gnomAD v3: 6-10529576-C-T
gnomAD v4: 6-10529576-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529576C>T , CM000668.2:g.10529576C>T GRCh38
NC_000006.11:g.10529809C>T , CM000668.1:g.10529809C>T GRCh37
NC_000006.10:g.10637795C>T NCBI36
NG_007469.3:g.42354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+735C>T
ENST00000495262.7:c.665C>T MANE Select ENSP00000419411.2:p.Pro222Leu
ENST00000379597.7:c.665C>T ENSP00000368917.3:p.Pro222Leu
ENST00000397423.6:n.484+735C>T
ENST00000410107.5:c.67+20418C>T ENSP00000386321.1:n.67+20418C>T
ENST00000474518.1:n.508+735C>T
ENST00000474983.5:n.1242C>T
ENST00000475577.5:n.254+1916C>T
ENST00000483204.1:n.1241C>T
ENST00000489225.5:n.283+36645C>T
ENST00000489819.5:n.175+7982C>T
ENST00000495262.5:c.665C>T ENSP00000419411.1:p.Pro222Leu
NM_145649.4:c.665C>T NP_663624.1:p.Pro222Leu
XM_005248999.2:c.434C>T XP_005249056.1:p.Pro145Leu
XM_006715052.2:c.665C>T XP_006715115.1:p.Pro222Leu
XM_006715053.2:c.665C>T XP_006715116.1:p.Pro222Leu
XM_011514465.1:c.665C>T XP_011512767.1:p.Pro222Leu
XM_011514467.1:c.434C>T XP_011512769.1:p.Pro145Leu
XM_011514468.1:c.665C>T XP_011512770.1:p.Pro222Leu
XR_926136.1:n.1216C>T
XM_006715052.3:c.665C>T XP_006715115.1:p.Pro222Leu
XM_011514468.3:c.665C>T XP_011512770.1:p.Pro222Leu
XM_017010732.2:c.665C>T XP_016866221.1:p.Pro222Leu
XR_002956275.1:n.1216C>T
XR_926136.2:n.1214C>T
NM_001374747.1:c.665C>T NP_001361676.1:p.Pro222Leu
NM_145649.5:c.665C>T MANE Select NP_663624.1:p.Pro222Leu