Canonical Allele Identifier: CA146747
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93217
dbSNP Id: rs1054486

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12663394G>C , CM000681.2:g.12663394G>C GRCh38
NC_000019.9:g.12774208G>C , CM000681.1:g.12774208G>C GRCh37
NC_000019.8:g.12635208G>C NCBI36
NG_008318.1:g.8384C>G
NG_015814.1:g.1591G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.832C>G MANE Select ENSP00000395473.2:p.Leu278Val
ENST00000221363.8:c.832C>G ENSP00000221363.4:p.Leu278Val
ENST00000456935.6:c.832C>G ENSP00000395473.2:p.Leu278Val
ENST00000462144.1:n.25C>G
ENST00000466794.5:n.814C>G
NM_000528.3:c.832C>G NP_000519.2:p.Leu278Val
NM_001173498.1:c.832C>G NP_001166969.1:p.Leu278Val
XM_005259913.1:c.832C>G XP_005259970.1:p.Leu278Val
XM_005259913.2:c.832C>G XP_005259970.1:p.Leu278Val
XM_024451518.1:c.-187C>G XP_024307286.1:n.-187C>G
NM_000528.4:c.832C>G MANE Select NP_000519.2:p.Leu278Val
NM_001173498.2:c.832C>G NP_001166969.1:p.Leu278Val