Canonical Allele Identifier: CA2323506905
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12663786C= , CM000681.2:g.12663786C= GRCh38
NC_000019.9:g.12774600C= , CM000681.1:g.12774600C= GRCh37
NC_000019.8:g.12635600C= NCBI36
NG_008318.1:g.7992G=
NG_015814.1:g.1983C=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.680G= MANE Select ENSP00000395473.2:p.Trp227=
ENST00000221363.8:c.680G= ENSP00000221363.4:p.Trp227=
ENST00000456935.6:c.680G= ENSP00000395473.2:p.Trp227=
ENST00000466794.5:n.662G=
ENST00000486847.2:c.383G= ENSP00000470174.1:p.Trp128=
NM_000528.3:c.680G= NP_000519.2:p.Trp227=
NM_001173498.1:c.680G= NP_001166969.1:p.Trp227=
XM_005259913.1:c.680G= XP_005259970.1:p.Trp227=
XM_005259913.2:c.680G= XP_005259970.1:p.Trp227=
XM_024451518.1:c.-339G= XP_024307286.1:n.-339G=
NM_000528.4:c.680G= MANE Select NP_000519.2:p.Trp227=
NM_001173498.2:c.680G= NP_001166969.1:p.Trp227=