Canonical Allele Identifier: CA2582720974

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12658064-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658065del , CM000681.2:g.12658065del	GRCh38
NC_000019.9:g.12768879del , CM000681.1:g.12768879del	GRCh37
NC_000019.8:g.12629879del	NCBI36
NG_008318.1:g.13713del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1307del MANE Select	ENSP00000395473.2:p.Leu436ProfsTer?
ENST00000221363.8:c.1304del	ENSP00000221363.4:p.Leu435ProfsTer?
ENST00000456935.6:c.1307del	ENSP00000395473.2:p.Leu436ProfsTer?
ENST00000465830.1:n.471del
ENST00000466794.5:n.1206del
ENST00000495617.1:n.281-305del
NM_000528.3:c.1307del	NP_000519.2:p.Leu436ProfsTer?
NM_001173498.1:c.1304del	NP_001166969.1:p.Leu435ProfsTer?
XM_005259913.1:c.1310del	XP_005259970.1:p.Leu437ProfsTer?
XM_011528017.1:c.206del	XP_011526319.1:p.Leu69ProfsTer?
XM_005259913.2:c.1310del	XP_005259970.1:p.Leu437ProfsTer?
XM_024451518.1:c.206del	XP_024307286.1:p.Leu69ProfsTer?
NM_000528.4:c.1307del MANE Select	NP_000519.2:p.Leu436ProfsTer?
NM_001173498.2:c.1304del	NP_001166969.1:p.Leu435ProfsTer?