Canonical Allele Identifier: CA2323507487
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12664982C= , CM000681.2:g.12664982C= GRCh38
NC_000019.9:g.12775796C= , CM000681.1:g.12775796C= GRCh37
NC_000019.8:g.12636796C= NCBI36
NG_008318.1:g.6796G=
NG_015814.1:g.3179C=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.440G= MANE Select ENSP00000395473.2:p.Arg147=
ENST00000221363.8:c.440G= ENSP00000221363.4:p.Arg147=
ENST00000456935.6:c.440G= ENSP00000395473.2:p.Arg147=
ENST00000466794.5:n.422G=
ENST00000486847.2:c.333+370G= ENSP00000470174.1:n.333+370G=
ENST00000596512.5:n.378G=
ENST00000597961.1:c.431G= ENSP00000472710.1:p.Arg144=
ENST00000598876.1:c.467G= ENSP00000470533.1:p.Arg156=
NM_000528.3:c.440G= NP_000519.2:p.Arg147=
NM_001173498.1:c.440G= NP_001166969.1:p.Arg147=
XM_005259913.1:c.440G= XP_005259970.1:p.Arg147=
XM_005259913.2:c.440G= XP_005259970.1:p.Arg147=
XM_024451518.1:c.-579G= XP_024307286.1:n.-579G=
NM_000528.4:c.440G= MANE Select NP_000519.2:p.Arg147=
NM_001173498.2:c.440G= NP_001166969.1:p.Arg147=