Canonical Allele Identifier: CA2323500083
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650108C= , CM000681.2:g.12650108C= GRCh38
NC_000019.9:g.12760922C= , CM000681.1:g.12760922C= GRCh37
NC_000019.8:g.12621922C= NCBI36
NG_008318.1:g.21670G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2161G= MANE Select ENSP00000395473.2:p.Val721=
ENST00000221363.8:c.2158G= ENSP00000221363.4:p.Val720=
ENST00000456935.6:c.2161G= ENSP00000395473.2:p.Val721=
ENST00000466794.5:n.2751G=
NM_000528.3:c.2161G= NP_000519.2:p.Val721=
NM_001173498.1:c.2158G= NP_001166969.1:p.Val720=
XM_005259913.1:c.2164G= XP_005259970.1:p.Val722=
XM_011528017.1:c.1060G= XP_011526319.1:p.Val354=
XM_005259913.2:c.2164G= XP_005259970.1:p.Val722=
XM_024451518.1:c.1060G= XP_024307286.1:p.Val354=
NM_000528.4:c.2161G= MANE Select NP_000519.2:p.Val721=
NM_001173498.2:c.2158G= NP_001166969.1:p.Val720=