Canonical Allele Identifier: CA2323499552
Community Standard Title: NM_000528.4(MAN2B1):c.2426T= (p.Leu809=)
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649146A= , CM000681.2:g.12649146A= GRCh38
NC_000019.9:g.12759960A= , CM000681.1:g.12759960A= GRCh37
NC_000019.8:g.12620960A= NCBI36
NG_008318.1:g.22632T=

Transcript Alleles

HGVS Amino-acid Change
NM_000528.4:c.2426T= MANE Select NP_000519.2:p.Leu809=
ENST00000456935.7:c.2426T= MANE Select ENSP00000395473.2:p.Leu809=
NM_000528.3:c.2426T= NP_000519.2:p.Leu809=
NM_001173498.1:c.2423T= NP_001166969.1:p.Leu808=
NM_001173498.2:c.2423T= NP_001166969.1:p.Leu808=
ENST00000221363.8:c.2423T= ENSP00000221363.4:p.Leu808=
ENST00000456935.6:c.2426T= ENSP00000395473.2:p.Leu809=
ENST00000466794.5:n.3016T=
XM_005259913.1:c.2429T= XP_005259970.1:p.Leu810=
XM_005259913.2:c.2429T= XP_005259970.1:p.Leu810=
XM_011528017.1:c.1325T= XP_011526319.1:p.Leu442=
XM_024451518.1:c.1325T= XP_024307286.1:p.Leu442=