Canonical Allele Identifier: CA2695228381
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647588dup , CM000681.2:g.12647588dup GRCh38
NC_000019.9:g.12758402dup , CM000681.1:g.12758402dup GRCh37
NC_000019.8:g.12619402dup NCBI36
NG_008318.1:g.24190dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2675dup MANE Select ENSP00000395473.2:p.Arg893AlafsTer?
ENST00000221363.8:c.2672dup ENSP00000221363.4:p.Arg892AlafsTer?
ENST00000456935.6:c.2675dup ENSP00000395473.2:p.Arg893AlafsTer?
ENST00000466794.5:n.3265dup
ENST00000493218.5:n.86dup
ENST00000597692.1:c.234dup
NM_000528.3:c.2675dup NP_000519.2:p.Arg893AlafsTer?
NM_001173498.1:c.2672dup NP_001166969.1:p.Arg892AlafsTer?
XM_005259913.1:c.2678dup XP_005259970.1:p.Arg894AlafsTer?
XM_011528017.1:c.1574dup XP_011526319.1:p.Arg526AlafsTer?
XM_005259913.2:c.2678dup XP_005259970.1:p.Arg894AlafsTer?
XM_024451518.1:c.1574dup XP_024307286.1:p.Arg526AlafsTer?
NM_000528.4:c.2675dup MANE Select NP_000519.2:p.Arg893AlafsTer?
NM_001173498.2:c.2672dup NP_001166969.1:p.Arg892AlafsTer?