Canonical Allele Identifier: CA2323498615
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647393C= , CM000681.2:g.12647393C= GRCh38
NC_000019.9:g.12758207C= , CM000681.1:g.12758207C= GRCh37
NC_000019.8:g.12619207C= NCBI36
NG_008318.1:g.24385G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2820+50G= MANE Select ENSP00000395473.2:n.2820+50G=
ENST00000221363.8:c.2817+50G= ENSP00000221363.4:n.2817+50G=
ENST00000456935.6:c.2820+50G= ENSP00000395473.2:n.2820+50G=
ENST00000466794.5:n.3410+50G=
ENST00000469423.1:n.192G=
ENST00000493218.5:n.231+50G=
ENST00000597692.1:c.379+50G=
NM_000528.3:c.2820+50G= NP_000519.2:n.2820+50G=
NM_001173498.1:c.2817+50G= NP_001166969.1:n.2817+50G=
XM_005259913.1:c.2823+50G= XP_005259970.1:n.2823+50G=
XM_011528017.1:c.1719+50G= XP_011526319.1:n.1719+50G=
XM_005259913.2:c.2823+50G= XP_005259970.1:n.2823+50G=
XM_024451518.1:c.1719+50G= XP_024307286.1:n.1719+50G=
NM_000528.4:c.2820+50G= MANE Select NP_000519.2:n.2820+50G=
NM_001173498.2:c.2817+50G= NP_001166969.1:n.2817+50G=