Canonical Allele Identifier: CA221087

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 93216
• ClinVar RCV Id: RCV000079079
• dbSNP Id: rs398123458
• MyVariant Identifiers: chr19:g.12776229_12776231del (hg19) ; chr19:g.12776229_12776231delAGA (hg19) ; chr19:g.12665415_12665417del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665420_12665422del , CM000681.2:g.12665420_12665422del	GRCh38
NC_000019.9:g.12776234_12776236del , CM000681.1:g.12776234_12776236del	GRCh37
NC_000019.8:g.12637234_12637236del	NCBI36
NG_008318.1:g.6361_6363del
NG_015814.1:g.3617_3619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.371_373del MANE Select	ENSP00000395473.2:p.Phe124del
ENST00000221363.8:c.371_373del	ENSP00000221363.4:p.Phe124del
ENST00000456935.6:c.371_373del	ENSP00000395473.2:p.Phe124del
ENST00000466794.5:n.353_355del
ENST00000486847.2:c.268_270del	ENSP00000470174.1:p.Ser90del
ENST00000596512.5:n.309_311del
ENST00000597961.1:c.362_364del	ENSP00000472710.1:p.Phe121del
ENST00000598876.1:c.398_400del	ENSP00000470533.1:p.Phe133del
ENST00000600281.1:n.412_414del
NM_000528.3:c.371_373del	NP_000519.2:p.Phe124del
NM_001173498.1:c.371_373del	NP_001166969.1:p.Phe124del
XM_005259913.1:c.371_373del	XP_005259970.1:p.Phe124del
XM_005259913.2:c.371_373del	XP_005259970.1:p.Phe124del
XM_024451518.1:c.-648_-646del	XP_024307286.1:n.-648_-646del
NM_000528.4:c.371_373del MANE Select	NP_000519.2:p.Phe124del
NM_001173498.2:c.371_373del	NP_001166969.1:p.Phe124del