Canonical Allele Identifier: CA2323500127
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650205C= , CM000681.2:g.12650205C= GRCh38
NC_000019.9:g.12761019C= , CM000681.1:g.12761019C= GRCh37
NC_000019.8:g.12622019C= NCBI36
NG_008318.1:g.21573G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2064G= MANE Select ENSP00000395473.2:p.Glu688=
ENST00000221363.8:c.2061G= ENSP00000221363.4:p.Glu687=
ENST00000456935.6:c.2064G= ENSP00000395473.2:p.Glu688=
ENST00000466794.5:n.2654G=
NM_000528.3:c.2064G= NP_000519.2:p.Glu688=
NM_001173498.1:c.2061G= NP_001166969.1:p.Glu687=
XM_005259913.1:c.2067G= XP_005259970.1:p.Glu689=
XM_011528017.1:c.963G= XP_011526319.1:p.Glu321=
XM_005259913.2:c.2067G= XP_005259970.1:p.Glu689=
XM_024451518.1:c.963G= XP_024307286.1:p.Glu321=
NM_000528.4:c.2064G= MANE Select NP_000519.2:p.Glu688=
NM_001173498.2:c.2061G= NP_001166969.1:p.Glu687=