Canonical Allele Identifier: CA2323503643
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12657275C= , CM000681.2:g.12657275C= GRCh38
NC_000019.9:g.12768089C= , CM000681.1:g.12768089C= GRCh37
NC_000019.8:g.12629089C= NCBI36
NG_008318.1:g.14503G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1419+171G= MANE Select ENSP00000395473.2:n.1419+171G=
ENST00000221363.8:c.1416+171G= ENSP00000221363.4:n.1416+171G=
ENST00000456935.6:c.1419+171G= ENSP00000395473.2:n.1419+171G=
ENST00000466794.5:n.1318+171G=
ENST00000495617.1:n.595+171G=
ENST00000593686.1:c.29+171G=
ENST00000595880.5:n.16+89G=
NM_000528.3:c.1419+171G= NP_000519.2:n.1419+171G=
NM_001173498.1:c.1416+171G= NP_001166969.1:n.1416+171G=
XM_005259913.1:c.1422+171G= XP_005259970.1:n.1422+171G=
XM_011528017.1:c.318+171G= XP_011526319.1:n.318+171G=
XM_005259913.2:c.1422+171G= XP_005259970.1:n.1422+171G=
XM_024451518.1:c.318+171G= XP_024307286.1:n.318+171G=
NM_000528.4:c.1419+171G= MANE Select NP_000519.2:n.1419+171G=
NM_001173498.2:c.1416+171G= NP_001166969.1:n.1416+171G=