Canonical Allele Identifier: CA341737

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 21210
• ClinVar RCV Id: RCV000020367
• dbSNP Id: rs80338681
• ExAC: 19:12759960 A / G
• gnomAD v2: 19-12759960-A-G
• gnomAD v3: 19-12649146-A-G
• gnomAD v4: 19-12649146-A-G
• MyVariant Identifiers: chr19:g.12759960A>G (hg19) ; chr19:g.12649146A>G (hg38)
• PubMed: PMID:1472354 ; PMID:9915946 ; PMID:12634058 ; PMID:15035660 ; PMID:19958498 ; PMID:20301570 ; PMID:22161967 ; PMID:23613340

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649146A>G , CM000681.2:g.12649146A>G	GRCh38
NC_000019.9:g.12759960A>G , CM000681.1:g.12759960A>G	GRCh37
NC_000019.8:g.12620960A>G	NCBI36
NG_008318.1:g.22632T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2426T>C MANE Select	ENSP00000395473.2:p.Leu809Pro
ENST00000221363.8:c.2423T>C	ENSP00000221363.4:p.Leu808Pro
ENST00000456935.6:c.2426T>C	ENSP00000395473.2:p.Leu809Pro
ENST00000466794.5:n.3016T>C
NM_000528.3:c.2426T>C	NP_000519.2:p.Leu809Pro
NM_001173498.1:c.2423T>C	NP_001166969.1:p.Leu808Pro
XM_005259913.1:c.2429T>C	XP_005259970.1:p.Leu810Pro
XM_011528017.1:c.1325T>C	XP_011526319.1:p.Leu442Pro
XM_005259913.2:c.2429T>C	XP_005259970.1:p.Leu810Pro
XM_024451518.1:c.1325T>C	XP_024307286.1:p.Leu442Pro
NM_000528.4:c.2426T>C MANE Select	NP_000519.2:p.Leu809Pro
NM_001173498.2:c.2423T>C	NP_001166969.1:p.Leu808Pro