Canonical Allele Identifier: CA2323504378
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658424A= , CM000681.2:g.12658424A= GRCh38
NC_000019.9:g.12769238A= , CM000681.1:g.12769238A= GRCh37
NC_000019.8:g.12630238A= NCBI36
NG_008318.1:g.13354T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1109+4T= MANE Select ENSP00000395473.2:n.1109+4T=
ENST00000221363.8:c.1106+4T= ENSP00000221363.4:n.1106+4T=
ENST00000456935.6:c.1109+4T= ENSP00000395473.2:n.1109+4T=
ENST00000465830.1:n.194T=
ENST00000466794.5:n.1009-80T=
ENST00000495617.1:n.280+307T=
NM_000528.3:c.1109+4T= NP_000519.2:n.1109+4T=
NM_001173498.1:c.1106+4T= NP_001166969.1:n.1106+4T=
XM_005259913.1:c.1112+4T= XP_005259970.1:n.1112+4T=
XM_011528017.1:c.9-80T= XP_011526319.1:n.9-80T=
XM_005259913.2:c.1112+4T= XP_005259970.1:n.1112+4T=
XM_024451518.1:c.9-80T= XP_024307286.1:n.9-80T=
NM_000528.4:c.1109+4T= MANE Select NP_000519.2:n.1109+4T=
NM_001173498.2:c.1106+4T= NP_001166969.1:n.1106+4T=