Canonical Allele Identifier: CA2323507683
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665376C= , CM000681.2:g.12665376C= GRCh38
NC_000019.9:g.12776190C= , CM000681.1:g.12776190C= GRCh37
NC_000019.8:g.12637190C= NCBI36
NG_008318.1:g.6402G=
NG_015814.1:g.3573C=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.412G= MANE Select ENSP00000395473.2:p.Val138=
ENST00000221363.8:c.412G= ENSP00000221363.4:p.Val138=
ENST00000456935.6:c.412G= ENSP00000395473.2:p.Val138=
ENST00000466794.5:n.394G=
ENST00000486847.2:c.309G= ENSP00000470174.1:p.Lys103=
ENST00000596512.5:n.350G=
ENST00000597961.1:c.403G= ENSP00000472710.1:p.Val135=
ENST00000598876.1:c.439G= ENSP00000470533.1:p.Val147=
ENST00000600281.1:n.453G=
NM_000528.3:c.412G= NP_000519.2:p.Val138=
NM_001173498.1:c.412G= NP_001166969.1:p.Val138=
XM_005259913.1:c.412G= XP_005259970.1:p.Val138=
XM_005259913.2:c.412G= XP_005259970.1:p.Val138=
XM_024451518.1:c.-607G= XP_024307286.1:n.-607G=
NM_000528.4:c.412G= MANE Select NP_000519.2:p.Val138=
NM_001173498.2:c.412G= NP_001166969.1:p.Val138=