Canonical Allele Identifier: CA2323505698
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12661264G= , CM000681.2:g.12661264G= GRCh38
NC_000019.9:g.12772078G= , CM000681.1:g.12772078G= GRCh37
NC_000019.8:g.12633078G= NCBI36
NG_008318.1:g.10514C=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1022C= MANE Select ENSP00000395473.2:p.Ala341=
ENST00000221363.8:c.1022C= ENSP00000221363.4:p.Ala341=
ENST00000456935.6:c.1022C= ENSP00000395473.2:p.Ala341=
ENST00000462144.1:n.215C=
ENST00000466794.5:n.1004C=
NM_000528.3:c.1022C= NP_000519.2:p.Ala341=
NM_001173498.1:c.1022C= NP_001166969.1:p.Ala341=
XM_005259913.1:c.1022C= XP_005259970.1:p.Ala341=
XM_011528017.1:c.4C= XP_011526319.1:p.Arg2=
XM_005259913.2:c.1022C= XP_005259970.1:p.Ala341=
XM_024451518.1:c.4C= XP_024307286.1:p.Arg2=
NM_000528.4:c.1022C= MANE Select NP_000519.2:p.Ala341=
NM_001173498.2:c.1022C= NP_001166969.1:p.Ala341=