Canonical Allele Identifier: CA350927
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208261
ClinVar RCV Id: RCV000206932
dbSNP Id: rs864621980

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658482A>G , CM000681.2:g.12658482A>G GRCh38
NC_000019.9:g.12769296A>G , CM000681.1:g.12769296A>G GRCh37
NC_000019.8:g.12630296A>G NCBI36
NG_008318.1:g.13296T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.1055T>C MANE Select ENSP00000395473.2:p.Leu352Pro
ENST00000221363.8:c.1052T>C ENSP00000221363.4:p.Leu351Pro
ENST00000456935.6:c.1055T>C ENSP00000395473.2:p.Leu352Pro
ENST00000465830.1:n.136T>C
ENST00000466794.5:n.1009-138T>C
ENST00000495617.1:n.280+249T>C
NM_000528.3:c.1055T>C NP_000519.2:p.Leu352Pro
NM_001173498.1:c.1052T>C NP_001166969.1:p.Leu351Pro
XM_005259913.1:c.1058T>C XP_005259970.1:p.Leu353Pro
XM_011528017.1:c.9-138T>C XP_011526319.1:n.9-138T>C
XM_005259913.2:c.1058T>C XP_005259970.1:p.Leu353Pro
XM_024451518.1:c.9-138T>C XP_024307286.1:n.9-138T>C
NM_000528.4:c.1055T>C MANE Select NP_000519.2:p.Leu352Pro
NM_001173498.2:c.1052T>C NP_001166969.1:p.Leu351Pro