Canonical Allele Identifier: CA404246379
Gene: MAN2B1 HGNC NCBI

Linked Data

dbSNP Id: rs1229982479

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657014C>G , CM000681.2:g.12657014C>G GRCh38
NC_000019.9:g.12767828C>G , CM000681.1:g.12767828C>G GRCh37
NC_000019.8:g.12628828C>G NCBI36
NG_008318.1:g.14764G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1462G>C MANE Select ENSP00000395473.2:p.Asp488His
ENST00000221363.8:c.1459G>C ENSP00000221363.4:p.Asp487His
ENST00000433513.5:n.68G>C
ENST00000456935.6:c.1462G>C ENSP00000395473.2:p.Asp488His
ENST00000466794.5:n.1361G>C
ENST00000495617.1:n.638G>C
ENST00000593686.1:c.72G>C
ENST00000595880.5:n.59G>C
NM_000528.3:c.1462G>C NP_000519.2:p.Asp488His
NM_001173498.1:c.1459G>C NP_001166969.1:p.Asp487His
XM_005259913.1:c.1465G>C XP_005259970.1:p.Asp489His
XM_011528017.1:c.361G>C XP_011526319.1:p.Asp121His
XM_005259913.2:c.1465G>C XP_005259970.1:p.Asp489His
XM_024451518.1:c.361G>C XP_024307286.1:p.Asp121His
NM_000528.4:c.1462G>C MANE Select NP_000519.2:p.Asp488His
NM_001173498.2:c.1459G>C NP_001166969.1:p.Asp487His