Canonical Allele Identifier: CA2582720433

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12657276-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657277del , CM000681.2:g.12657277del	GRCh38
NC_000019.9:g.12768091del , CM000681.1:g.12768091del	GRCh37
NC_000019.8:g.12629091del	NCBI36
NG_008318.1:g.14501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1419+169del MANE Select	ENSP00000395473.2:n.1419+169del
ENST00000221363.8:c.1416+169del	ENSP00000221363.4:n.1416+169del
ENST00000456935.6:c.1419+169del	ENSP00000395473.2:n.1419+169del
ENST00000466794.5:n.1318+169del
ENST00000495617.1:n.595+169del
ENST00000593686.1:c.29+169del
ENST00000595880.5:n.16+87del
NM_000528.3:c.1419+169del	NP_000519.2:n.1419+169del
NM_001173498.1:c.1416+169del	NP_001166969.1:n.1416+169del
XM_005259913.1:c.1422+169del	XP_005259970.1:n.1422+169del
XM_011528017.1:c.318+169del	XP_011526319.1:n.318+169del
XM_005259913.2:c.1422+169del	XP_005259970.1:n.1422+169del
XM_024451518.1:c.318+169del	XP_024307286.1:n.318+169del
NM_000528.4:c.1419+169del MANE Select	NP_000519.2:n.1419+169del
NM_001173498.2:c.1416+169del	NP_001166969.1:n.1416+169del