Canonical Allele Identifier: CA2582722640

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665389-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665392del , CM000681.2:g.12665392del	GRCh38
NC_000019.9:g.12776206del , CM000681.1:g.12776206del	GRCh37
NC_000019.8:g.12637206del	NCBI36
NG_008318.1:g.6388del
NG_015814.1:g.3589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.398del MANE Select	ENSP00000395473.2:p.Asn133MetfsTer24
ENST00000221363.8:c.398del	ENSP00000221363.4:p.Asn133MetfsTer24
ENST00000456935.6:c.398del	ENSP00000395473.2:p.Asn133MetfsTer24
ENST00000466794.5:n.380del
ENST00000486847.2:c.295del	ENSP00000470174.1:p.Met99CysfsTer?
ENST00000596512.5:n.336del
ENST00000597961.1:c.389del	ENSP00000472710.1:p.Asn130MetfsTer24
ENST00000598876.1:c.425del	ENSP00000470533.1:p.Asn142MetfsTer24
ENST00000600281.1:n.439del
NM_000528.3:c.398del	NP_000519.2:p.Asn133MetfsTer24
NM_001173498.1:c.398del	NP_001166969.1:p.Asn133MetfsTer24
XM_005259913.1:c.398del	XP_005259970.1:p.Asn133MetfsTer24
XM_005259913.2:c.398del	XP_005259970.1:p.Asn133MetfsTer24
XM_024451518.1:c.-621del	XP_024307286.1:n.-621del
NM_000528.4:c.398del MANE Select	NP_000519.2:p.Asn133MetfsTer24
NM_001173498.2:c.398del	NP_001166969.1:p.Asn133MetfsTer24