Canonical Allele Identifier: CA2323507709
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665434G= , CM000681.2:g.12665434G= GRCh38
NC_000019.9:g.12776248G= , CM000681.1:g.12776248G= GRCh37
NC_000019.8:g.12637248G= NCBI36
NG_008318.1:g.6344C=
NG_015814.1:g.3631G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.354C= MANE Select ENSP00000395473.2:p.Tyr118=
ENST00000221363.8:c.354C= ENSP00000221363.4:p.Tyr118=
ENST00000456935.6:c.354C= ENSP00000395473.2:p.Tyr118=
ENST00000466794.5:n.336C=
ENST00000486847.2:c.251C= ENSP00000470174.1:p.Thr84=
ENST00000596512.5:n.292C=
ENST00000597961.1:c.345C= ENSP00000472710.1:p.Tyr115=
ENST00000598876.1:c.381C= ENSP00000470533.1:p.Tyr127=
ENST00000600281.1:n.395C=
NM_000528.3:c.354C= NP_000519.2:p.Tyr118=
NM_001173498.1:c.354C= NP_001166969.1:p.Tyr118=
XM_005259913.1:c.354C= XP_005259970.1:p.Tyr118=
XM_005259913.2:c.354C= XP_005259970.1:p.Tyr118=
XM_024451518.1:c.-665C= XP_024307286.1:n.-665C=
NM_000528.4:c.354C= MANE Select NP_000519.2:p.Tyr118=
NM_001173498.2:c.354C= NP_001166969.1:p.Tyr118=