Canonical Allele Identifier: CA16041960
Gene: MAN2B1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370845
ClinVar RCV Id: RCV000410677
dbSNP Id: rs1057516810

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12666648_12666649insA , CM000681.2:g.12666648_12666649insA GRCh38
NC_000019.9:g.12777462_12777463insA , CM000681.1:g.12777462_12777463insA GRCh37
NC_000019.8:g.12638462_12638463insA NCBI36
NG_008318.1:g.5129_5130insT
NG_015814.1:g.4845_4846insA

Transcript Alleles

HGVS Amino-acid change
NM_000528.3:c.53_54insT VV NP_000519.2:p.Ala19SerfsTer?
NM_001173498.1:c.53_54insT VV NP_001166969.1:p.Ala19SerfsTer?
XM_005259913.1:c.53_54insT XP_005259970.1:p.Ala19SerfsTer?
XM_005259913.2:c.53_54insT
XM_024451518.1:c.-966_-965insT XP_024307286.1:p.=
NM_000528.4:c.53_54insT VV MANE Preferred
ENST00000221363.8:c.53_54insT ENSP00000221363.4:p.Ala19SerfsTer?
ENST00000456935.6:c.53_54insT ENSP00000395473.2:p.Ala19SerfsTer?
ENST00000466794.5:n.35_36insT
ENST00000486847.2:c.53_54insT ENSP00000470174.1:p.Ala19SerfsTer?
ENST00000596512.5:n.94_95insT
ENST00000597961.1:n.151-844_151-843insT ENSP00000472710.1:p.=
ENST00000598876.1:c.53_54insT ENSP00000470533.1:p.Ala19SerfsTer?
ENST00000600281.1:n.94_95insT