Canonical Allele Identifier: CA658799153

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 520823
• ClinVar RCV Id: RCV000623866 ; RCV001775927
• dbSNP Id: rs1555706706
• MyVariant Identifiers: chr19:g.12760782del (hg19) ; chr19:g.12649968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649969del , CM000681.2:g.12649969del	GRCh38
NC_000019.9:g.12760783del , CM000681.1:g.12760783del	GRCh37
NC_000019.8:g.12621783del	NCBI36
NG_008318.1:g.21810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.2212del MANE Select	ENSP00000395473.2:p.Glu738ArgfsTer28
ENST00000221363.8:c.2209del	ENSP00000221363.4:p.Glu737ArgfsTer28
ENST00000456935.6:c.2212del	ENSP00000395473.2:p.Glu738ArgfsTer28
ENST00000466794.5:n.2802del
NM_000528.3:c.2212del	NP_000519.2:p.Glu738ArgfsTer28
NM_001173498.1:c.2209del	NP_001166969.1:p.Glu737ArgfsTer28
XM_005259913.1:c.2215del	XP_005259970.1:p.Glu739ArgfsTer28
XM_011528017.1:c.1111del	XP_011526319.1:p.Glu371ArgfsTer28
XM_005259913.2:c.2215del	XP_005259970.1:p.Glu739ArgfsTer28
XM_024451518.1:c.1111del	XP_024307286.1:p.Glu371ArgfsTer28
NM_000528.4:c.2212del MANE Select	NP_000519.2:p.Glu738ArgfsTer28
NM_001173498.2:c.2209del	NP_001166969.1:p.Glu737ArgfsTer28