Canonical Allele Identifier: CA2582722385

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664879-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664883_12664885del , CM000681.2:g.12664883_12664885del	GRCh38
NC_000019.9:g.12775697_12775699del , CM000681.1:g.12775697_12775699del	GRCh37
NC_000019.8:g.12636697_12636699del	NCBI36
NG_008318.1:g.6896_6898del
NG_015814.1:g.3080_3082del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.540_542del MANE Select	ENSP00000395473.2:p.Glu180del
ENST00000221363.8:c.540_542del	ENSP00000221363.4:p.Glu180del
ENST00000456935.6:c.540_542del	ENSP00000395473.2:p.Glu180del
ENST00000466794.5:n.522_524del
ENST00000486847.2:c.333+470_333+472del	ENSP00000470174.1:n.333+470_333+472del
ENST00000596512.5:n.478_480del
ENST00000597961.1:c.531_533del	ENSP00000472710.1:p.Glu177del
NM_000528.3:c.540_542del	NP_000519.2:p.Glu180del
NM_001173498.1:c.540_542del	NP_001166969.1:p.Glu180del
XM_005259913.1:c.540_542del	XP_005259970.1:p.Glu180del
XM_005259913.2:c.540_542del	XP_005259970.1:p.Glu180del
XM_024451518.1:c.-479_-477del	XP_024307286.1:n.-479_-477del
NM_000528.4:c.540_542del MANE Select	NP_000519.2:p.Glu180del
NM_001173498.2:c.540_542del	NP_001166969.1:p.Glu180del