Canonical Allele Identifier: CA2323499562
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12649169_12649170delinsGC , CM000681.2:g.12649169_12649170delinsGC GRCh38
NC_000019.9:g.12759983_12759984delinsGC , CM000681.1:g.12759983_12759984delinsGC GRCh37
NC_000019.8:g.12620983_12620984delinsGC NCBI36
NG_008318.1:g.22608_22609delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.2402_2403delinsGC MANE Select ENSP00000395473.2:p.Gly801=
ENST00000221363.8:c.2399_2400delinsGC ENSP00000221363.4:p.Gly800=
ENST00000456935.6:c.2402_2403delinsGC ENSP00000395473.2:p.Gly801=
ENST00000466794.5:n.2992_2993delinsGC
NM_000528.3:c.2402_2403delinsGC NP_000519.2:p.Gly801=
NM_001173498.1:c.2399_2400delinsGC NP_001166969.1:p.Gly800=
XM_005259913.1:c.2405_2406delinsGC XP_005259970.1:p.Gly802=
XM_011528017.1:c.1301_1302delinsGC XP_011526319.1:p.Gly434=
XM_005259913.2:c.2405_2406delinsGC XP_005259970.1:p.Gly802=
XM_024451518.1:c.1301_1302delinsGC XP_024307286.1:p.Gly434=
NM_000528.4:c.2402_2403delinsGC MANE Select NP_000519.2:p.Gly801=
NM_001173498.2:c.2399_2400delinsGC NP_001166969.1:p.Gly800=