Canonical Allele Identifier: CA351002

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 208282
• ClinVar RCV Id: RCV000206997
• dbSNP Id: rs864621992
• gnomAD v3: 19-12658474-T-G
• gnomAD v4: 19-12658474-T-G
• MyVariant Identifiers: chr19:g.12769288T>G (hg19) ; chr19:g.12658474T>G (hg38)
• PubMed: PMID:9915946

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658474T>G , CM000681.2:g.12658474T>G	GRCh38
NC_000019.9:g.12769288T>G , CM000681.1:g.12769288T>G	GRCh37
NC_000019.8:g.12630288T>G	NCBI36
NG_008318.1:g.13304A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1063A>C MANE Select	ENSP00000395473.2:p.Thr355Pro
ENST00000221363.8:c.1060A>C	ENSP00000221363.4:p.Thr354Pro
ENST00000456935.6:c.1063A>C	ENSP00000395473.2:p.Thr355Pro
ENST00000465830.1:n.144A>C
ENST00000466794.5:n.1009-130A>C
ENST00000495617.1:n.280+257A>C
NM_000528.3:c.1063A>C	NP_000519.2:p.Thr355Pro
NM_001173498.1:c.1060A>C	NP_001166969.1:p.Thr354Pro
XM_005259913.1:c.1066A>C	XP_005259970.1:p.Thr356Pro
XM_011528017.1:c.9-130A>C	XP_011526319.1:n.9-130A>C
XM_005259913.2:c.1066A>C	XP_005259970.1:p.Thr356Pro
XM_024451518.1:c.9-130A>C	XP_024307286.1:n.9-130A>C
NM_000528.4:c.1063A>C MANE Select	NP_000519.2:p.Thr355Pro
NM_001173498.2:c.1060A>C	NP_001166969.1:p.Thr354Pro