Canonical Allele Identifier: CA2323500110
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650157G= , CM000681.2:g.12650157G= GRCh38
NC_000019.9:g.12760971G= , CM000681.1:g.12760971G= GRCh37
NC_000019.8:g.12621971G= NCBI36
NG_008318.1:g.21621C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2112C= MANE Select ENSP00000395473.2:p.Tyr704=
ENST00000221363.8:c.2109C= ENSP00000221363.4:p.Tyr703=
ENST00000456935.6:c.2112C= ENSP00000395473.2:p.Tyr704=
ENST00000466794.5:n.2702C=
NM_000528.3:c.2112C= NP_000519.2:p.Tyr704=
NM_001173498.1:c.2109C= NP_001166969.1:p.Tyr703=
XM_005259913.1:c.2115C= XP_005259970.1:p.Tyr705=
XM_011528017.1:c.1011C= XP_011526319.1:p.Tyr337=
XM_005259913.2:c.2115C= XP_005259970.1:p.Tyr705=
XM_024451518.1:c.1011C= XP_024307286.1:p.Tyr337=
NM_000528.4:c.2112C= MANE Select NP_000519.2:p.Tyr704=
NM_001173498.2:c.2109C= NP_001166969.1:p.Tyr703=