Canonical Allele Identifier: CA404237470
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647308G>C , CM000681.2:g.12647308G>C GRCh38
NC_000019.9:g.12758122G>C , CM000681.1:g.12758122G>C GRCh37
NC_000019.8:g.12619122G>C NCBI36
NG_008318.1:g.24470C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2848C>G MANE Select ENSP00000395473.2:p.Arg950Gly
ENST00000221363.8:c.2845C>G ENSP00000221363.4:p.Arg949Gly
ENST00000456935.6:c.2848C>G ENSP00000395473.2:p.Arg950Gly
ENST00000466794.5:n.3438C>G
ENST00000469423.1:n.277C>G
ENST00000493218.5:n.259C>G
ENST00000597692.1:c.407C>G
NM_000528.3:c.2848C>G NP_000519.2:p.Arg950Gly
NM_001173498.1:c.2845C>G NP_001166969.1:p.Arg949Gly
XM_005259913.1:c.2851C>G XP_005259970.1:p.Arg951Gly
XM_011528017.1:c.1747C>G XP_011526319.1:p.Arg583Gly
XM_005259913.2:c.2851C>G XP_005259970.1:p.Arg951Gly
XM_024451518.1:c.1747C>G XP_024307286.1:p.Arg583Gly
NM_000528.4:c.2848C>G MANE Select NP_000519.2:p.Arg950Gly
NM_001173498.2:c.2845C>G NP_001166969.1:p.Arg949Gly