Canonical Allele Identifier: CA404256978
Gene: MAN2B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665465A>C , CM000681.2:g.12665465A>C GRCh38
NC_000019.9:g.12776279A>C , CM000681.1:g.12776279A>C GRCh37
NC_000019.8:g.12637279A>C NCBI36
NG_008318.1:g.6313T>G
NG_015814.1:g.3662A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.323T>G MANE Select ENSP00000395473.2:p.Leu108Trp
ENST00000221363.8:c.323T>G ENSP00000221363.4:p.Leu108Trp
ENST00000456935.6:c.323T>G ENSP00000395473.2:p.Leu108Trp
ENST00000466794.5:n.305T>G
ENST00000486847.2:c.220T>G ENSP00000470174.1:p.Cys74Gly
ENST00000596512.5:n.261T>G
ENST00000597961.1:c.314T>G ENSP00000472710.1:p.Leu105Trp
ENST00000598876.1:c.350T>G ENSP00000470533.1:p.Leu117Trp
ENST00000600281.1:n.364T>G
NM_000528.3:c.323T>G NP_000519.2:p.Leu108Trp
NM_001173498.1:c.323T>G NP_001166969.1:p.Leu108Trp
XM_005259913.1:c.323T>G XP_005259970.1:p.Leu108Trp
XM_005259913.2:c.323T>G XP_005259970.1:p.Leu108Trp
XM_024451518.1:c.-696T>G XP_024307286.1:n.-696T>G
NM_000528.4:c.323T>G MANE Select NP_000519.2:p.Leu108Trp
NM_001173498.2:c.323T>G NP_001166969.1:p.Leu108Trp