Canonical Allele Identifier: CA16041954
Gene: MAN2B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370487
ClinVar RCV Id: RCV000409662
dbSNP Id: rs1057516524

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658291C>T , CM000681.2:g.12658291C>T GRCh38
NC_000019.9:g.12769105C>T , CM000681.1:g.12769105C>T GRCh37
NC_000019.8:g.12630105C>T NCBI36
NG_008318.1:g.13487G>A

Transcript Alleles

HGVS Amino-acid change
NM_000528.3:c.1163G>A VV NP_000519.2:p.Trp388Ter
NM_001173498.1:c.1160G>A VV NP_001166969.1:p.Trp387Ter
XM_005259913.1:c.1166G>A XP_005259970.1:p.Trp389Ter
XM_011528017.1:c.62G>A XP_011526319.1:p.Trp21Ter
XM_005259913.2:c.1166G>A
XM_024451518.1:c.62G>A XP_024307286.1:p.Trp21Ter
ENST00000221363.8:c.1160G>A ENSP00000221363.4:p.Trp387Ter
ENST00000456935.6:c.1163G>A ENSP00000395473.2:p.Trp388Ter
ENST00000465830.1:n.327G>A
ENST00000466794.5:n.1062G>A
ENST00000495617.1:n.280+440G>A