Canonical Allele Identifier: CA2323504281
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658245G= , CM000681.2:g.12658245G= GRCh38
NC_000019.9:g.12769059G= , CM000681.1:g.12769059G= GRCh37
NC_000019.8:g.12630059G= NCBI36
NG_008318.1:g.13533C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1209C= MANE Select ENSP00000395473.2:p.Arg403=
ENST00000221363.8:c.1206C= ENSP00000221363.4:p.Arg402=
ENST00000456935.6:c.1209C= ENSP00000395473.2:p.Arg403=
ENST00000465830.1:n.373C=
ENST00000466794.5:n.1108C=
ENST00000495617.1:n.281-485C=
NM_000528.3:c.1209C= NP_000519.2:p.Arg403=
NM_001173498.1:c.1206C= NP_001166969.1:p.Arg402=
XM_005259913.1:c.1212C= XP_005259970.1:p.Arg404=
XM_011528017.1:c.108C= XP_011526319.1:p.Arg36=
XM_005259913.2:c.1212C= XP_005259970.1:p.Arg404=
XM_024451518.1:c.108C= XP_024307286.1:p.Arg36=
NM_000528.4:c.1209C= MANE Select NP_000519.2:p.Arg403=
NM_001173498.2:c.1206C= NP_001166969.1:p.Arg402=