Canonical Allele Identifier: CA2582717374

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647589-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647592del , CM000681.2:g.12647592del	GRCh38
NC_000019.9:g.12758406del , CM000681.1:g.12758406del	GRCh37
NC_000019.8:g.12619406del	NCBI36
NG_008318.1:g.24188del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2673del MANE Select	ENSP00000395473.2:p.Leu892CysfsTer?
ENST00000221363.8:c.2670del	ENSP00000221363.4:p.Leu891CysfsTer?
ENST00000456935.6:c.2673del	ENSP00000395473.2:p.Leu892CysfsTer?
ENST00000466794.5:n.3263del
ENST00000493218.5:n.84del
ENST00000597692.1:c.232del
NM_000528.3:c.2673del	NP_000519.2:p.Leu892CysfsTer?
NM_001173498.1:c.2670del	NP_001166969.1:p.Leu891CysfsTer?
XM_005259913.1:c.2676del	XP_005259970.1:p.Leu893CysfsTer?
XM_011528017.1:c.1572del	XP_011526319.1:p.Leu525CysfsTer?
XM_005259913.2:c.2676del	XP_005259970.1:p.Leu893CysfsTer?
XM_024451518.1:c.1572del	XP_024307286.1:p.Leu525CysfsTer?
NM_000528.4:c.2673del MANE Select	NP_000519.2:p.Leu892CysfsTer?
NM_001173498.2:c.2670del	NP_001166969.1:p.Leu891CysfsTer?