Canonical Allele Identifier: CA2323500218
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650360T= , CM000681.2:g.12650360T= GRCh38
NC_000019.9:g.12761174T= , CM000681.1:g.12761174T= GRCh37
NC_000019.8:g.12622174T= NCBI36
NG_008318.1:g.21418A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2047-138A= MANE Select ENSP00000395473.2:n.2047-138A=
ENST00000221363.8:c.2044-138A= ENSP00000221363.4:n.2044-138A=
ENST00000456935.6:c.2047-138A= ENSP00000395473.2:n.2047-138A=
ENST00000466794.5:n.2637-138A=
NM_000528.3:c.2047-138A= NP_000519.2:n.2047-138A=
NM_001173498.1:c.2044-138A= NP_001166969.1:n.2044-138A=
XM_005259913.1:c.2050-138A= XP_005259970.1:n.2050-138A=
XM_011528017.1:c.946-138A= XP_011526319.1:n.946-138A=
XM_005259913.2:c.2050-138A= XP_005259970.1:n.2050-138A=
XM_024451518.1:c.946-138A= XP_024307286.1:n.946-138A=
NM_000528.4:c.2047-138A= MANE Select NP_000519.2:n.2047-138A=
NM_001173498.2:c.2044-138A= NP_001166969.1:n.2044-138A=