Canonical Allele Identifier: CA350955
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208267
ClinVar RCV Id: RCV000206955
dbSNP Id: rs864621984

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657507G>T , CM000681.2:g.12657507G>T GRCh38
NC_000019.9:g.12768321G>T , CM000681.1:g.12768321G>T GRCh37
NC_000019.8:g.12629321G>T NCBI36
NG_008318.1:g.14271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1358C>A MANE Select ENSP00000395473.2:p.Ser453Tyr
ENST00000221363.8:c.1355C>A ENSP00000221363.4:p.Ser452Tyr
ENST00000456935.6:c.1358C>A ENSP00000395473.2:p.Ser453Tyr
ENST00000465830.1:n.522C>A
ENST00000466794.5:n.1257C>A
ENST00000495617.1:n.534C>A
NM_000528.3:c.1358C>A NP_000519.2:p.Ser453Tyr
NM_001173498.1:c.1355C>A NP_001166969.1:p.Ser452Tyr
XM_005259913.1:c.1361C>A XP_005259970.1:p.Ser454Tyr
XM_011528017.1:c.257C>A XP_011526319.1:p.Ser86Tyr
XM_005259913.2:c.1361C>A XP_005259970.1:p.Ser454Tyr
XM_024451518.1:c.257C>A XP_024307286.1:p.Ser86Tyr
NM_000528.4:c.1358C>A MANE Select NP_000519.2:p.Ser453Tyr
NM_001173498.2:c.1355C>A NP_001166969.1:p.Ser452Tyr