Canonical Allele Identifier: CA2541360169

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658563del , CM000681.2:g.12658563del	GRCh38
NC_000019.9:g.12769377del , CM000681.1:g.12769377del	GRCh37
NC_000019.8:g.12630377del	NCBI36
NG_008318.1:g.13219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1027-49del MANE Select	ENSP00000395473.2:n.1027-49del
ENST00000221363.8:c.1027-52del	ENSP00000221363.4:n.1027-52del
ENST00000456935.6:c.1027-49del	ENSP00000395473.2:n.1027-49del
ENST00000465830.1:n.59del
ENST00000466794.5:n.1009-215del
ENST00000495617.1:n.280+172del
NM_000528.3:c.1027-49del	NP_000519.2:n.1027-49del
NM_001173498.1:c.1027-52del	NP_001166969.1:n.1027-52del
XM_005259913.1:c.1027-46del	XP_005259970.1:n.1027-46del
XM_011528017.1:c.9-215del	XP_011526319.1:n.9-215del
XM_005259913.2:c.1027-46del	XP_005259970.1:n.1027-46del
XM_024451518.1:c.9-215del	XP_024307286.1:n.9-215del
NM_000528.4:c.1027-49del MANE Select	NP_000519.2:n.1027-49del
NM_001173498.2:c.1027-52del	NP_001166969.1:n.1027-52del