Canonical Allele Identifier: CA2323503489
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657036C= , CM000681.2:g.12657036C= GRCh38
NC_000019.9:g.12767850C= , CM000681.1:g.12767850C= GRCh37
NC_000019.8:g.12628850C= NCBI36
NG_008318.1:g.14742G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1440G= MANE Select ENSP00000395473.2:p.Leu480=
ENST00000221363.8:c.1437G= ENSP00000221363.4:p.Leu479=
ENST00000433513.5:n.46G=
ENST00000456935.6:c.1440G= ENSP00000395473.2:p.Leu480=
ENST00000466794.5:n.1339G=
ENST00000495617.1:n.616G=
ENST00000593686.1:c.50G=
ENST00000595880.5:n.37G=
NM_000528.3:c.1440G= NP_000519.2:p.Leu480=
NM_001173498.1:c.1437G= NP_001166969.1:p.Leu479=
XM_005259913.1:c.1443G= XP_005259970.1:p.Leu481=
XM_011528017.1:c.339G= XP_011526319.1:p.Leu113=
XM_005259913.2:c.1443G= XP_005259970.1:p.Leu481=
XM_024451518.1:c.339G= XP_024307286.1:p.Leu113=
NM_000528.4:c.1440G= MANE Select NP_000519.2:p.Leu480=
NM_001173498.2:c.1437G= NP_001166969.1:p.Leu479=