Canonical Allele Identifier: CA2582721024

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658447-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658448del , CM000681.2:g.12658448del	GRCh38
NC_000019.9:g.12769262del , CM000681.1:g.12769262del	GRCh37
NC_000019.8:g.12630262del	NCBI36
NG_008318.1:g.13330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1089del MANE Select	ENSP00000395473.2:p.Asn364ThrfsTer9
ENST00000221363.8:c.1086del	ENSP00000221363.4:p.Asn363ThrfsTer9
ENST00000456935.6:c.1089del	ENSP00000395473.2:p.Asn364ThrfsTer9
ENST00000465830.1:n.170del
ENST00000466794.5:n.1009-104del
ENST00000495617.1:n.280+283del
NM_000528.3:c.1089del	NP_000519.2:p.Asn364ThrfsTer9
NM_001173498.1:c.1086del	NP_001166969.1:p.Asn363ThrfsTer9
XM_005259913.1:c.1092del	XP_005259970.1:p.Asn365ThrfsTer9
XM_011528017.1:c.9-104del	XP_011526319.1:n.9-104del
XM_005259913.2:c.1092del	XP_005259970.1:p.Asn365ThrfsTer9
XM_024451518.1:c.9-104del	XP_024307286.1:n.9-104del
NM_000528.4:c.1089del MANE Select	NP_000519.2:p.Asn364ThrfsTer9
NM_001173498.2:c.1086del	NP_001166969.1:p.Asn363ThrfsTer9