Canonical Allele Identifier: CA2323507490
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12664988G= , CM000681.2:g.12664988G= GRCh38
NC_000019.9:g.12775802G= , CM000681.1:g.12775802G= GRCh37
NC_000019.8:g.12636802G= NCBI36
NG_008318.1:g.6790C=
NG_015814.1:g.3185G=

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.437-3C= MANE Select ENSP00000395473.2:n.437-3C=
ENST00000221363.8:c.437-3C= ENSP00000221363.4:n.437-3C=
ENST00000456935.6:c.437-3C= ENSP00000395473.2:n.437-3C=
ENST00000466794.5:n.419-3C=
ENST00000486847.2:c.333+364C= ENSP00000470174.1:n.333+364C=
ENST00000596512.5:n.375-3C=
ENST00000597961.1:c.428-3C= ENSP00000472710.1:n.428-3C=
ENST00000598876.1:c.464-3C= ENSP00000470533.1:n.464-3C=
NM_000528.3:c.437-3C= NP_000519.2:n.437-3C=
NM_001173498.1:c.437-3C= NP_001166969.1:n.437-3C=
XM_005259913.1:c.437-3C= XP_005259970.1:n.437-3C=
XM_005259913.2:c.437-3C= XP_005259970.1:n.437-3C=
XM_024451518.1:c.-582-3C= XP_024307286.1:n.-582-3C=
NM_000528.4:c.437-3C= MANE Select NP_000519.2:n.437-3C=
NM_001173498.2:c.437-3C= NP_001166969.1:n.437-3C=