Canonical Allele Identifier: CA2582722490

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12665142-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665144del , CM000681.2:g.12665144del	GRCh38
NC_000019.9:g.12775958del , CM000681.1:g.12775958del	GRCh37
NC_000019.8:g.12636958del	NCBI36
NG_008318.1:g.6635del
NG_015814.1:g.3341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.437-158del MANE Select	ENSP00000395473.2:n.437-158del
ENST00000221363.8:c.437-158del	ENSP00000221363.4:n.437-158del
ENST00000456935.6:c.437-158del	ENSP00000395473.2:n.437-158del
ENST00000466794.5:n.419-158del
ENST00000486847.2:c.333+209del	ENSP00000470174.1:n.333+209del
ENST00000596512.5:n.375-158del
ENST00000597961.1:c.428-158del	ENSP00000472710.1:n.428-158del
ENST00000598876.1:c.464-158del	ENSP00000470533.1:n.464-158del
NM_000528.3:c.437-158del	NP_000519.2:n.437-158del
NM_001173498.1:c.437-158del	NP_001166969.1:n.437-158del
XM_005259913.1:c.437-158del	XP_005259970.1:n.437-158del
XM_005259913.2:c.437-158del	XP_005259970.1:n.437-158del
XM_024451518.1:c.-582-158del	XP_024307286.1:n.-582-158del
NM_000528.4:c.437-158del MANE Select	NP_000519.2:n.437-158del
NM_001173498.2:c.437-158del	NP_001166969.1:n.437-158del