Canonical Allele Identifier: CA2323502801
Community Standard Title: NM_000528.4(MAN2B1):c.1830+1G=
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655693C= , CM000681.2:g.12655693C= GRCh38
NC_000019.9:g.12766507C= , CM000681.1:g.12766507C= GRCh37
NC_000019.8:g.12627507C= NCBI36
NG_008318.1:g.16085G=

Transcript Alleles

HGVS Amino-acid Change
NM_000528.4:c.1830+1G= MANE Select NP_000519.2:n.1830+1G=
ENST00000456935.7:c.1830+1G= MANE Select ENSP00000395473.2:n.1830+1G=
NM_000528.3:c.1830+1G= NP_000519.2:n.1830+1G=
NM_001173498.1:c.1827+1G= NP_001166969.1:n.1827+1G=
NM_001173498.2:c.1827+1G= NP_001166969.1:n.1827+1G=
ENST00000221363.8:c.1827+1G= ENSP00000221363.4:n.1827+1G=
ENST00000433513.5:n.436+1G=
ENST00000456935.6:c.1830+1G= ENSP00000395473.2:n.1830+1G=
ENST00000466794.5:n.2420+1G=
ENST00000593686.1:c.423+1G=
ENST00000595880.5:n.427+1G=
ENST00000596591.1:c.194+1G=
XM_005259913.1:c.1833+1G= XP_005259970.1:n.1833+1G=
XM_005259913.2:c.1833+1G= XP_005259970.1:n.1833+1G=
XM_011528017.1:c.729+1G= XP_011526319.1:n.729+1G=
XM_024451518.1:c.729+1G= XP_024307286.1:n.729+1G=