Canonical Allele Identifier: CA2576634717

Gene: MAN2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647540del , CM000681.2:g.12647540del	GRCh38
NC_000019.9:g.12758354del , CM000681.1:g.12758354del	GRCh37
NC_000019.8:g.12619354del	NCBI36
NG_008318.1:g.24241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2726del MANE Select	ENSP00000395473.2:p.Gly909AlafsTer15
ENST00000221363.8:c.2723del	ENSP00000221363.4:p.Gly908AlafsTer15
ENST00000456935.6:c.2726del	ENSP00000395473.2:p.Gly909AlafsTer15
ENST00000466794.5:n.3316del
ENST00000469423.1:n.48del
ENST00000493218.5:n.137del
ENST00000597692.1:c.285del
NM_000528.3:c.2726del	NP_000519.2:p.Gly909AlafsTer15
NM_001173498.1:c.2723del	NP_001166969.1:p.Gly908AlafsTer15
XM_005259913.1:c.2729del	XP_005259970.1:p.Gly910AlafsTer15
XM_011528017.1:c.1625del	XP_011526319.1:p.Gly542AlafsTer15
XM_005259913.2:c.2729del	XP_005259970.1:p.Gly910AlafsTer15
XM_024451518.1:c.1625del	XP_024307286.1:p.Gly542AlafsTer15
NM_000528.4:c.2726del MANE Select	NP_000519.2:p.Gly909AlafsTer15
NM_001173498.2:c.2723del	NP_001166969.1:p.Gly908AlafsTer15