Canonical Allele Identifier: CA16041945
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370914
ClinVar RCV Id: RCV000409219
dbSNP Id: rs1057516864

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12647465dup , CM000681.2:g.12647465dup GRCh38
NC_000019.9:g.12758279dup , CM000681.1:g.12758279dup GRCh37
NC_000019.8:g.12619279dup NCBI36
NG_008318.1:g.24317dup

Transcript Alleles

HGVS Amino-acid change
ENST00000456935.7:c.2802dup MANE Select ENSP00000395473.2:p.Val935ArgfsTer?
ENST00000221363.8:c.2799dup ENSP00000221363.4:p.Val934ArgfsTer?
ENST00000456935.6:c.2802dup ENSP00000395473.2:p.Val935ArgfsTer?
ENST00000466794.5:n.3392dup
ENST00000469423.1:n.124dup
ENST00000493218.5:n.213dup
ENST00000597692.1:c.361dup
NM_000528.3:c.2802dup NP_000519.2:p.Val935ArgfsTer?
NM_001173498.1:c.2799dup NP_001166969.1:p.Val934ArgfsTer?
XM_005259913.1:c.2805dup XP_005259970.1:p.Val936ArgfsTer?
XM_011528017.1:c.1701dup XP_011526319.1:p.Val568ArgfsTer?
XM_005259913.2:c.2805dup XP_005259970.1:p.Val936ArgfsTer?
XM_024451518.1:c.1701dup XP_024307286.1:p.Val568ArgfsTer?
NM_000528.4:c.2802dup MANE Select NP_000519.2:p.Val935ArgfsTer?
NM_001173498.2:c.2799dup NP_001166969.1:p.Val934ArgfsTer?