Canonical Allele Identifier: CA10648318
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328281
ClinVar RCV Id: RCV000384198
dbSNP Id: rs370803545
COSMIC: COSM212262

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665370G>A , CM000681.2:g.12665370G>A GRCh38
NC_000019.9:g.12776184G>A , CM000681.1:g.12776184G>A GRCh37
NC_000019.8:g.12637184G>A NCBI36
NG_008318.1:g.6408C>T
NG_015814.1:g.3567G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.418C>T MANE Select ENSP00000395473.2:p.Arg140Ter
ENST00000221363.8:c.418C>T ENSP00000221363.4:p.Arg140Ter
ENST00000456935.6:c.418C>T ENSP00000395473.2:p.Arg140Ter
ENST00000466794.5:n.400C>T
ENST00000486847.2:c.315C>T ENSP00000470174.1:p.Cys105=
ENST00000596512.5:n.356C>T
ENST00000597961.1:c.409C>T ENSP00000472710.1:p.Arg137Ter
ENST00000598876.1:c.445C>T ENSP00000470533.1:p.Arg149Ter
ENST00000600281.1:n.459C>T
NM_000528.3:c.418C>T NP_000519.2:p.Arg140Ter
NM_001173498.1:c.418C>T NP_001166969.1:p.Arg140Ter
XM_005259913.1:c.418C>T XP_005259970.1:p.Arg140Ter
XM_005259913.2:c.418C>T XP_005259970.1:p.Arg140Ter
XM_024451518.1:c.-601C>T XP_024307286.1:n.-601C>T
NM_000528.4:c.418C>T MANE Select NP_000519.2:p.Arg140Ter
NM_001173498.2:c.418C>T NP_001166969.1:p.Arg140Ter