Canonical Allele Identifier: CA16620767
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419533
dbSNP Id: rs1064793936

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649218T>C , CM000681.2:g.12649218T>C GRCh38
NC_000019.9:g.12760032T>C , CM000681.1:g.12760032T>C GRCh37
NC_000019.8:g.12621032T>C NCBI36
NG_008318.1:g.22560A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2356-2A>G MANE Select ENSP00000395473.2:n.2356-2A>G
ENST00000221363.8:c.2353-2A>G ENSP00000221363.4:n.2353-2A>G
ENST00000456935.6:c.2356-2A>G ENSP00000395473.2:n.2356-2A>G
ENST00000466794.5:n.2946-2A>G
NM_000528.3:c.2356-2A>G NP_000519.2:n.2356-2A>G
NM_001173498.1:c.2353-2A>G NP_001166969.1:n.2353-2A>G
XM_005259913.1:c.2359-2A>G XP_005259970.1:n.2359-2A>G
XM_011528017.1:c.1255-2A>G XP_011526319.1:n.1255-2A>G
XM_005259913.2:c.2359-2A>G XP_005259970.1:n.2359-2A>G
XM_024451518.1:c.1255-2A>G XP_024307286.1:n.1255-2A>G
NM_000528.4:c.2356-2A>G MANE Select NP_000519.2:n.2356-2A>G
NM_001173498.2:c.2353-2A>G NP_001166969.1:n.2353-2A>G