Canonical Allele Identifier: CA404252189
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12663403C>G , CM000681.2:g.12663403C>G GRCh38
NC_000019.9:g.12774217C>G , CM000681.1:g.12774217C>G GRCh37
NC_000019.8:g.12635217C>G NCBI36
NG_008318.1:g.8375G>C
NG_015814.1:g.1600C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.823G>C MANE Select ENSP00000395473.2:p.Asp275His
ENST00000221363.8:c.823G>C ENSP00000221363.4:p.Asp275His
ENST00000456935.6:c.823G>C ENSP00000395473.2:p.Asp275His
ENST00000462144.1:n.16G>C
ENST00000466794.5:n.805G>C
NM_000528.3:c.823G>C NP_000519.2:p.Asp275His
NM_001173498.1:c.823G>C NP_001166969.1:p.Asp275His
XM_005259913.1:c.823G>C XP_005259970.1:p.Asp275His
XM_005259913.2:c.823G>C XP_005259970.1:p.Asp275His
XM_024451518.1:c.-196G>C XP_024307286.1:n.-196G>C
NM_000528.4:c.823G>C MANE Select NP_000519.2:p.Asp275His
NM_001173498.2:c.823G>C NP_001166969.1:p.Asp275His