Canonical Allele Identifier: CA2582720220

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2795523
• ClinVar RCV Id: RCV003600782
• gnomAD v4: 19-12656998-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657002del , CM000681.2:g.12657002del	GRCh38
NC_000019.9:g.12767816del , CM000681.1:g.12767816del	GRCh37
NC_000019.8:g.12628816del	NCBI36
NG_008318.1:g.14779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1477del MANE Select	ENSP00000395473.2:p.Cys493AlafsTer4
ENST00000221363.8:c.1474del	ENSP00000221363.4:p.Cys492AlafsTer4
ENST00000433513.5:n.83del
ENST00000456935.6:c.1477del	ENSP00000395473.2:p.Cys493AlafsTer4
ENST00000466794.5:n.1376del
ENST00000495617.1:n.653del
ENST00000593686.1:c.87del
ENST00000595880.5:n.74del
NM_000528.3:c.1477del	NP_000519.2:p.Cys493AlafsTer4
NM_001173498.1:c.1474del	NP_001166969.1:p.Cys492AlafsTer4
XM_005259913.1:c.1480del	XP_005259970.1:p.Cys494AlafsTer4
XM_011528017.1:c.376del	XP_011526319.1:p.Cys126AlafsTer4
XM_005259913.2:c.1480del	XP_005259970.1:p.Cys494AlafsTer4
XM_024451518.1:c.376del	XP_024307286.1:p.Cys126AlafsTer4
NM_000528.4:c.1477del MANE Select	NP_000519.2:p.Cys493AlafsTer4
NM_001173498.2:c.1474del	NP_001166969.1:p.Cys492AlafsTer4