Canonical Allele Identifier: CA221081
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93212
ClinVar RCV Id: RCV000079075 RCV001390130
dbSNP Id: rs398123455
gnomAD v4: 19-12652270-C-T
MyVariant Identifiers: chr19:g.12763084C>T (hg19) chr19:g.12652270C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12652270C>T , CM000681.2:g.12652270C>T GRCh38
NC_000019.9:g.12763084C>T , CM000681.1:g.12763084C>T GRCh37
NC_000019.8:g.12624084C>T NCBI36
NG_008318.1:g.19508G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1929G>A MANE Select ENSP00000395473.2:p.Trp643Ter
ENST00000221363.8:c.1926G>A ENSP00000221363.4:p.Trp642Ter
ENST00000433513.5:n.535G>A
ENST00000456935.6:c.1929G>A ENSP00000395473.2:p.Trp643Ter
ENST00000466794.5:n.2519G>A
ENST00000593686.1:c.522G>A
ENST00000595880.5:n.526G>A
ENST00000596591.1:c.262G>A
NM_000528.3:c.1929G>A NP_000519.2:p.Trp643Ter
NM_001173498.1:c.1926G>A NP_001166969.1:p.Trp642Ter
XM_005259913.1:c.1932G>A XP_005259970.1:p.Trp644Ter
XM_011528017.1:c.828G>A XP_011526319.1:p.Trp276Ter
XM_005259913.2:c.1932G>A XP_005259970.1:p.Trp644Ter
XM_024451518.1:c.828G>A XP_024307286.1:p.Trp276Ter
NM_000528.4:c.1929G>A MANE Select NP_000519.2:p.Trp643Ter
NM_001173498.2:c.1926G>A NP_001166969.1:p.Trp642Ter
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