Canonical Allele Identifier: CA341737
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21210
ClinVar RCV Id: RCV000020367
dbSNP Id: rs80338681

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649146A>G , CM000681.2:g.12649146A>G GRCh38
NC_000019.9:g.12759960A>G , CM000681.1:g.12759960A>G GRCh37
NC_000019.8:g.12620960A>G NCBI36
NG_008318.1:g.22632T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2426T>C MANE Select ENSP00000395473.2:p.Leu809Pro
ENST00000221363.8:c.2423T>C ENSP00000221363.4:p.Leu808Pro
ENST00000456935.6:c.2426T>C ENSP00000395473.2:p.Leu809Pro
ENST00000466794.5:n.3016T>C
NM_000528.3:c.2426T>C NP_000519.2:p.Leu809Pro
NM_001173498.1:c.2423T>C NP_001166969.1:p.Leu808Pro
XM_005259913.1:c.2429T>C XP_005259970.1:p.Leu810Pro
XM_011528017.1:c.1325T>C XP_011526319.1:p.Leu442Pro
XM_005259913.2:c.2429T>C XP_005259970.1:p.Leu810Pro
XM_024451518.1:c.1325T>C XP_024307286.1:p.Leu442Pro
NM_000528.4:c.2426T>C MANE Select NP_000519.2:p.Leu809Pro
NM_001173498.2:c.2423T>C NP_001166969.1:p.Leu808Pro