Canonical Allele Identifier: CA3631800
Gene: GCNT2 HGNC NCBI

Linked Data

dbSNP Id: rs754493637
gnomAD v2: 6-10529815-A-T
gnomAD v3: 6-10529582-A-T
gnomAD v4: 6-10529582-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.10529582A>T , CM000668.2:g.10529582A>T GRCh38
NC_000006.11:g.10529815A>T , CM000668.1:g.10529815A>T GRCh37
NC_000006.10:g.10637801A>T NCBI36
NG_007469.3:g.42360A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397423.7:n.484+741A>T
ENST00000495262.7:c.671A>T MANE Select ENSP00000419411.2:p.His224Leu
ENST00000379597.7:c.671A>T ENSP00000368917.3:p.His224Leu
ENST00000397423.6:n.484+741A>T
ENST00000410107.5:c.67+20424A>T ENSP00000386321.1:n.67+20424A>T
ENST00000474518.1:n.508+741A>T
ENST00000474983.5:n.1248A>T
ENST00000475577.5:n.254+1922A>T
ENST00000483204.1:n.1247A>T
ENST00000489225.5:n.283+36651A>T
ENST00000489819.5:n.175+7988A>T
ENST00000495262.5:c.671A>T ENSP00000419411.1:p.His224Leu
NM_145649.4:c.671A>T NP_663624.1:p.His224Leu
XM_005248999.2:c.440A>T XP_005249056.1:p.His147Leu
XM_006715052.2:c.671A>T XP_006715115.1:p.His224Leu
XM_006715053.2:c.671A>T XP_006715116.1:p.His224Leu
XM_011514465.1:c.671A>T XP_011512767.1:p.His224Leu
XM_011514467.1:c.440A>T XP_011512769.1:p.His147Leu
XM_011514468.1:c.671A>T XP_011512770.1:p.His224Leu
XR_926136.1:n.1222A>T
XM_006715052.3:c.671A>T XP_006715115.1:p.His224Leu
XM_011514468.3:c.671A>T XP_011512770.1:p.His224Leu
XM_017010732.2:c.671A>T XP_016866221.1:p.His224Leu
XR_002956275.1:n.1222A>T
XR_926136.2:n.1220A>T
NM_001374747.1:c.671A>T NP_001361676.1:p.His224Leu
NM_145649.5:c.671A>T MANE Select NP_663624.1:p.His224Leu