Canonical Allele Identifier: CA2582720975

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658090-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658093del , CM000681.2:g.12658093del	GRCh38
NC_000019.9:g.12768907del , CM000681.1:g.12768907del	GRCh37
NC_000019.8:g.12629907del	NCBI36
NG_008318.1:g.13687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1281del MANE Select	ENSP00000395473.2:p.Tyr428MetfsTer?
ENST00000221363.8:c.1278del	ENSP00000221363.4:p.Tyr427MetfsTer?
ENST00000456935.6:c.1281del	ENSP00000395473.2:p.Tyr428MetfsTer?
ENST00000465830.1:n.445del
ENST00000466794.5:n.1180del
ENST00000495617.1:n.281-331del
NM_000528.3:c.1281del	NP_000519.2:p.Tyr428MetfsTer?
NM_001173498.1:c.1278del	NP_001166969.1:p.Tyr427MetfsTer?
XM_005259913.1:c.1284del	XP_005259970.1:p.Tyr429MetfsTer?
XM_011528017.1:c.180del	XP_011526319.1:p.Tyr61MetfsTer?
XM_005259913.2:c.1284del	XP_005259970.1:p.Tyr429MetfsTer?
XM_024451518.1:c.180del	XP_024307286.1:p.Tyr61MetfsTer?
NM_000528.4:c.1281del MANE Select	NP_000519.2:p.Tyr428MetfsTer?
NM_001173498.2:c.1278del	NP_001166969.1:p.Tyr427MetfsTer?