Canonical Allele Identifier: CA658824630

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 554301
• ClinVar RCV Id: RCV000669911
• dbSNP Id: rs1555706752
• MyVariant Identifiers: chr19:g.12650103del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650106del , CM000681.2:g.12650106del	GRCh38
NC_000019.9:g.12760920del , CM000681.1:g.12760920del	GRCh37
NC_000019.8:g.12621920del	NCBI36
NG_008318.1:g.21675del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2165+1del
ENST00000221363.8:c.2162+1del
ENST00000456935.6:c.2165+1del
ENST00000466794.5:n.2755+1del
NM_000528.3:c.2165+1del
NM_001173498.1:c.2162+1del
XM_005259913.1:c.2168+1del
XM_011528017.1:c.1064+1del
XM_005259913.2:c.2168+1del
XM_024451518.1:c.1064+1del
NM_000528.4:c.2165+1del
NM_001173498.2:c.2162+1del