Canonical Allele Identifier: CA2323504442
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12658559G= , CM000681.2:g.12658559G= GRCh38
NC_000019.9:g.12769373G= , CM000681.1:g.12769373G= GRCh37
NC_000019.8:g.12630373G= NCBI36
NG_008318.1:g.13219C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1027-49C= MANE Select ENSP00000395473.2:n.1027-49C=
ENST00000221363.8:c.1027-52C= ENSP00000221363.4:n.1027-52C=
ENST00000456935.6:c.1027-49C= ENSP00000395473.2:n.1027-49C=
ENST00000465830.1:n.59C=
ENST00000466794.5:n.1009-215C=
ENST00000495617.1:n.280+172C=
NM_000528.3:c.1027-49C= NP_000519.2:n.1027-49C=
NM_001173498.1:c.1027-52C= NP_001166969.1:n.1027-52C=
XM_005259913.1:c.1027-46C= XP_005259970.1:n.1027-46C=
XM_011528017.1:c.9-215C= XP_011526319.1:n.9-215C=
XM_005259913.2:c.1027-46C= XP_005259970.1:n.1027-46C=
XM_024451518.1:c.9-215C= XP_024307286.1:n.9-215C=
NM_000528.4:c.1027-49C= MANE Select NP_000519.2:n.1027-49C=
NM_001173498.2:c.1027-52C= NP_001166969.1:n.1027-52C=