Canonical Allele Identifier: CA10648307
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328249
ClinVar RCV Id: RCV000278964
dbSNP Id: rs886054227

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12646520A>C , CM000681.2:g.12646520A>C GRCh38
NC_000019.9:g.12757334A>C , CM000681.1:g.12757334A>C GRCh37
NC_000019.8:g.12618334A>C NCBI36
NG_008318.1:g.25258T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.*100T>G MANE Select ENSP00000395473.2:n.*100T>G
ENST00000221363.8:c.*100T>G ENSP00000221363.4:n.*100T>G
ENST00000456935.6:c.*100T>G ENSP00000395473.2:n.*100T>G
ENST00000469423.1:n.565T>G
ENST00000480851.5:n.316T>G
ENST00000493218.5:n.547T>G
ENST00000597692.1:c.695T>G
NM_000528.3:c.*100T>G NP_000519.2:n.*100T>G
NM_001173498.1:c.*100T>G NP_001166969.1:n.*100T>G
XM_005259913.1:c.*100T>G XP_005259970.1:n.*100T>G
XM_011528017.1:c.*100T>G XP_011526319.1:n.*100T>G
XM_005259913.2:c.*100T>G XP_005259970.1:n.*100T>G
XM_024451518.1:c.*100T>G XP_024307286.1:n.*100T>G
NM_000528.4:c.*100T>G MANE Select NP_000519.2:n.*100T>G
NM_001173498.2:c.*100T>G NP_001166969.1:n.*100T>G