Canonical Allele Identifier: CA2582720419

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657261-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657263dup , CM000681.2:g.12657263dup	GRCh38
NC_000019.9:g.12768077dup , CM000681.1:g.12768077dup	GRCh37
NC_000019.8:g.12629077dup	NCBI36
NG_008318.1:g.14516dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+184dup MANE Select	ENSP00000395473.2:n.1419+184dup
ENST00000221363.8:c.1416+184dup	ENSP00000221363.4:n.1416+184dup
ENST00000456935.6:c.1419+184dup	ENSP00000395473.2:n.1419+184dup
ENST00000466794.5:n.1318+184dup
ENST00000495617.1:n.595+184dup
ENST00000593686.1:c.29+184dup
ENST00000595880.5:n.16+102dup
NM_000528.3:c.1419+184dup	NP_000519.2:n.1419+184dup
NM_001173498.1:c.1416+184dup	NP_001166969.1:n.1416+184dup
XM_005259913.1:c.1422+184dup	XP_005259970.1:n.1422+184dup
XM_011528017.1:c.318+184dup	XP_011526319.1:n.318+184dup
XM_005259913.2:c.1422+184dup	XP_005259970.1:n.1422+184dup
XM_024451518.1:c.318+184dup	XP_024307286.1:n.318+184dup
NM_000528.4:c.1419+184dup MANE Select	NP_000519.2:n.1419+184dup
NM_001173498.2:c.1416+184dup	NP_001166969.1:n.1416+184dup