Canonical Allele Identifier: CA2582721097

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658656-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658660del , CM000681.2:g.12658660del	GRCh38
NC_000019.9:g.12769474del , CM000681.1:g.12769474del	GRCh37
NC_000019.8:g.12630474del	NCBI36
NG_008318.1:g.13121del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-147del MANE Select	ENSP00000395473.2:n.1027-147del
ENST00000221363.8:c.1027-150del	ENSP00000221363.4:n.1027-150del
ENST00000456935.6:c.1027-147del	ENSP00000395473.2:n.1027-147del
ENST00000466794.5:n.1009-313del
ENST00000495617.1:n.280+74del
NM_000528.3:c.1027-147del	NP_000519.2:n.1027-147del
NM_001173498.1:c.1027-150del	NP_001166969.1:n.1027-150del
XM_005259913.1:c.1027-144del	XP_005259970.1:n.1027-144del
XM_011528017.1:c.9-313del	XP_011526319.1:n.9-313del
XM_005259913.2:c.1027-144del	XP_005259970.1:n.1027-144del
XM_024451518.1:c.9-313del	XP_024307286.1:n.9-313del
NM_000528.4:c.1027-147del MANE Select	NP_000519.2:n.1027-147del
NM_001173498.2:c.1027-150del	NP_001166969.1:n.1027-150del