Canonical Allele Identifier: CA341734
Gene: MAN2B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21207
ClinVar RCV Id: RCV000020364 RCV000622767 RCV001564933
dbSNP Id: rs80338677
ExAC: 19:12766507 C / G
gnomAD v2: 19-12766507-C-G
gnomAD v3: 19-12655693-C-G
gnomAD v4: 19-12655693-C-G
MyVariant Identifiers: chr19:g.12766507C>G (hg19) chr19:g.12655693C>G (hg38)
PubMed: PMID:7307317 PMID:9758606 PMID:9915946 PMID:12816222 PMID:18651971 PMID:20301570 PMID:22161967 PMID:26048034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12655693C>G , CM000681.2:g.12655693C>G GRCh38
NC_000019.9:g.12766507C>G , CM000681.1:g.12766507C>G GRCh37
NC_000019.8:g.12627507C>G NCBI36
NG_008318.1:g.16085G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000456935.7:c.1830+1G>C MANE Select ENSP00000395473.2:n.1830+1G>C
ENST00000221363.8:c.1827+1G>C ENSP00000221363.4:n.1827+1G>C
ENST00000433513.5:n.436+1G>C
ENST00000456935.6:c.1830+1G>C ENSP00000395473.2:n.1830+1G>C
ENST00000466794.5:n.2420+1G>C
ENST00000593686.1:c.423+1G>C
ENST00000595880.5:n.427+1G>C
ENST00000596591.1:c.194+1G>C
NM_000528.3:c.1830+1G>C NP_000519.2:n.1830+1G>C
NM_001173498.1:c.1827+1G>C NP_001166969.1:n.1827+1G>C
XM_005259913.1:c.1833+1G>C XP_005259970.1:n.1833+1G>C
XM_011528017.1:c.729+1G>C XP_011526319.1:n.729+1G>C
XM_005259913.2:c.1833+1G>C XP_005259970.1:n.1833+1G>C
XM_024451518.1:c.729+1G>C XP_024307286.1:n.729+1G>C
NM_000528.4:c.1830+1G>C MANE Select NP_000519.2:n.1830+1G>C
NM_001173498.2:c.1827+1G>C NP_001166969.1:n.1827+1G>C
Search 100 bp 5'
Search 100 bp 3'