Canonical Allele Identifier: CA2323504400
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658478G= , CM000681.2:g.12658478G= GRCh38
NC_000019.9:g.12769292G= , CM000681.1:g.12769292G= GRCh37
NC_000019.8:g.12630292G= NCBI36
NG_008318.1:g.13300C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1059C= MANE Select ENSP00000395473.2:p.Tyr353=
ENST00000221363.8:c.1056C= ENSP00000221363.4:p.Tyr352=
ENST00000456935.6:c.1059C= ENSP00000395473.2:p.Tyr353=
ENST00000465830.1:n.140C=
ENST00000466794.5:n.1009-134C=
ENST00000495617.1:n.280+253C=
NM_000528.3:c.1059C= NP_000519.2:p.Tyr353=
NM_001173498.1:c.1056C= NP_001166969.1:p.Tyr352=
XM_005259913.1:c.1062C= XP_005259970.1:p.Tyr354=
XM_011528017.1:c.9-134C= XP_011526319.1:n.9-134C=
XM_005259913.2:c.1062C= XP_005259970.1:p.Tyr354=
XM_024451518.1:c.9-134C= XP_024307286.1:n.9-134C=
NM_000528.4:c.1059C= MANE Select NP_000519.2:p.Tyr353=
NM_001173498.2:c.1056C= NP_001166969.1:p.Tyr352=