Canonical Allele Identifier: CA2323500074
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650096C= , CM000681.2:g.12650096C= GRCh38
NC_000019.9:g.12760910C= , CM000681.1:g.12760910C= GRCh37
NC_000019.8:g.12621910C= NCBI36
NG_008318.1:g.21682G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2165+8G= MANE Select ENSP00000395473.2:n.2165+8G=
ENST00000221363.8:c.2162+8G= ENSP00000221363.4:n.2162+8G=
ENST00000456935.6:c.2165+8G= ENSP00000395473.2:n.2165+8G=
ENST00000466794.5:n.2755+8G=
NM_000528.3:c.2165+8G= NP_000519.2:n.2165+8G=
NM_001173498.1:c.2162+8G= NP_001166969.1:n.2162+8G=
XM_005259913.1:c.2168+8G= XP_005259970.1:n.2168+8G=
XM_011528017.1:c.1064+8G= XP_011526319.1:n.1064+8G=
XM_005259913.2:c.2168+8G= XP_005259970.1:n.2168+8G=
XM_024451518.1:c.1064+8G= XP_024307286.1:n.1064+8G=
NM_000528.4:c.2165+8G= MANE Select NP_000519.2:n.2165+8G=
NM_001173498.2:c.2162+8G= NP_001166969.1:n.2162+8G=