Canonical Allele Identifier: CA2323500095
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12650124C= , CM000681.2:g.12650124C= GRCh38
NC_000019.9:g.12760938C= , CM000681.1:g.12760938C= GRCh37
NC_000019.8:g.12621938C= NCBI36
NG_008318.1:g.21654G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2145G= MANE Select ENSP00000395473.2:p.Ser715=
ENST00000221363.8:c.2142G= ENSP00000221363.4:p.Ser714=
ENST00000456935.6:c.2145G= ENSP00000395473.2:p.Ser715=
ENST00000466794.5:n.2735G=
NM_000528.3:c.2145G= NP_000519.2:p.Ser715=
NM_001173498.1:c.2142G= NP_001166969.1:p.Ser714=
XM_005259913.1:c.2148G= XP_005259970.1:p.Ser716=
XM_011528017.1:c.1044G= XP_011526319.1:p.Ser348=
XM_005259913.2:c.2148G= XP_005259970.1:p.Ser716=
XM_024451518.1:c.1044G= XP_024307286.1:p.Ser348=
NM_000528.4:c.2145G= MANE Select NP_000519.2:p.Ser715=
NM_001173498.2:c.2142G= NP_001166969.1:p.Ser714=