Canonical Allele Identifier: CA2840761912
Gene: MAN2B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12665812dup , CM000681.2:g.12665812dup GRCh38
NC_000019.9:g.12776626dup , CM000681.1:g.12776626dup GRCh37
NC_000019.8:g.12637626dup NCBI36
NG_008318.1:g.5966dup
NG_015814.1:g.4009dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.160-7dup MANE Select ENSP00000395473.2:n.160-7dup
ENST00000221363.8:c.160-7dup ENSP00000221363.4:n.160-7dup
ENST00000456935.6:c.160-7dup ENSP00000395473.2:n.160-7dup
ENST00000466794.5:n.142-7dup
ENST00000486847.2:c.160-287dup ENSP00000470174.1:n.160-287dup
ENST00000596512.5:n.201-287dup
ENST00000597961.1:c.151-7dup ENSP00000472710.1:n.151-7dup
ENST00000598876.1:c.180dup ENSP00000470533.1:p.Val61CysfsTer22
ENST00000600281.1:n.201-7dup
NM_000528.3:c.160-7dup NP_000519.2:n.160-7dup
NM_001173498.1:c.160-7dup NP_001166969.1:n.160-7dup
XM_005259913.1:c.160-7dup XP_005259970.1:n.160-7dup
XM_005259913.2:c.160-7dup XP_005259970.1:n.160-7dup
XM_024451518.1:c.-859-7dup XP_024307286.1:n.-859-7dup
NM_000528.4:c.160-7dup MANE Select NP_000519.2:n.160-7dup
NM_001173498.2:c.160-7dup NP_001166969.1:n.160-7dup