Canonical Allele Identifier: CA2582722384

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664864-ATCATTGCCAAATGTGTCCTCCAGAAAGCGCAGCCCAAGTGTCATCTGGTCCACGATGGCACCGTAGTGGGTGGCTGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664869_12664946del , CM000681.2:g.12664869_12664946del	GRCh38
NC_000019.9:g.12775683_12775760del , CM000681.1:g.12775683_12775760del	GRCh37
NC_000019.8:g.12636683_12636760del	NCBI36
NG_008318.1:g.6836_6913del
NG_015814.1:g.3066_3143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.480_557del MANE Select	ENSP00000395473.2:p.Glu160_Asn185del
ENST00000221363.8:c.480_557del	ENSP00000221363.4:p.Glu160_Asn185del
ENST00000456935.6:c.480_557del	ENSP00000395473.2:p.Glu160_Asn185del
ENST00000466794.5:n.462_539del
ENST00000486847.2:c.333+410_333+487del	ENSP00000470174.1:n.333+410_333+487del
ENST00000596512.5:n.418_495del
ENST00000597961.1:c.471_548del	ENSP00000472710.1:p.Glu157_Asn182del
NM_000528.3:c.480_557del	NP_000519.2:p.Glu160_Asn185del
NM_001173498.1:c.480_557del	NP_001166969.1:p.Glu160_Asn185del
XM_005259913.1:c.480_557del	XP_005259970.1:p.Glu160_Asn185del
XM_005259913.2:c.480_557del	XP_005259970.1:p.Glu160_Asn185del
XM_024451518.1:c.-539_-462del	XP_024307286.1:n.-539_-462del
NM_000528.4:c.480_557del MANE Select	NP_000519.2:p.Glu160_Asn185del
NM_001173498.2:c.480_557del	NP_001166969.1:p.Glu160_Asn185del