Canonical Allele Identifier: CA2582717372

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12647496-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12647498del , CM000681.2:g.12647498del	GRCh38
NC_000019.9:g.12758312del , CM000681.1:g.12758312del	GRCh37
NC_000019.8:g.12619312del	NCBI36
NG_008318.1:g.24281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2766del MANE Select	ENSP00000395473.2:p.Val923Ter
ENST00000221363.8:c.2763del	ENSP00000221363.4:p.Val922Ter
ENST00000456935.6:c.2766del	ENSP00000395473.2:p.Val923Ter
ENST00000466794.5:n.3356del
ENST00000469423.1:n.88del
ENST00000493218.5:n.177del
ENST00000597692.1:c.325del
NM_000528.3:c.2766del	NP_000519.2:p.Val923Ter
NM_001173498.1:c.2763del	NP_001166969.1:p.Val922Ter
XM_005259913.1:c.2769del	XP_005259970.1:p.Val924Ter
XM_011528017.1:c.1665del	XP_011526319.1:p.Val556Ter
XM_005259913.2:c.2769del	XP_005259970.1:p.Val924Ter
XM_024451518.1:c.1665del	XP_024307286.1:p.Val556Ter
NM_000528.4:c.2766del MANE Select	NP_000519.2:p.Val923Ter
NM_001173498.2:c.2763del	NP_001166969.1:p.Val922Ter