Canonical Allele Identifier: CA631837633

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1548992
• ClinVar RCV Id: RCV002180240
• dbSNP Id: rs1568306887
• gnomAD v2: 19-12774120-AC-A
• gnomAD v4: 19-12663306-AC-A
• MyVariant Identifiers: chr19:g.12774121del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663308del , CM000681.2:g.12663308del	GRCh38
NC_000019.9:g.12774122del , CM000681.1:g.12774122del	GRCh37
NC_000019.8:g.12635122del	NCBI36
NG_008318.1:g.8471del
NG_015814.1:g.1505del

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.909+10del MANE Select	ENSP00000395473.2:n.909+10del
ENST00000221363.8:c.909+10del	ENSP00000221363.4:n.909+10del
ENST00000456935.6:c.909+10del	ENSP00000395473.2:n.909+10del
ENST00000462144.1:n.102+10del
ENST00000466794.5:n.891+10del
NM_000528.3:c.909+10del	NP_000519.2:n.909+10del
NM_001173498.1:c.909+10del	NP_001166969.1:n.909+10del
XM_005259913.1:c.909+10del	XP_005259970.1:n.909+10del
XM_011528017.1:c.-110+10del	XP_011526319.1:n.-110+10del
XM_005259913.2:c.909+10del	XP_005259970.1:n.909+10del
XM_024451518.1:c.-110+10del	XP_024307286.1:n.-110+10del
NM_000528.4:c.909+10del MANE Select	NP_000519.2:n.909+10del
NM_001173498.2:c.909+10del	NP_001166969.1:n.909+10del