Canonical Allele Identifier: CA274341

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 189068
• ClinVar RCV Id: RCV000169471
• dbSNP Id: rs775200333
• gnomAD v4: 19-12657482-G-C
• MyVariant Identifiers: chr19:g.12768296G>C (hg19) ; chr19:g.12657482G>C (hg38)
• PubMed: PMID:17979865 ; PMID:19958498

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657482G>C , CM000681.2:g.12657482G>C	GRCh38
NC_000019.9:g.12768296G>C , CM000681.1:g.12768296G>C	GRCh37
NC_000019.8:g.12629296G>C	NCBI36
NG_008318.1:g.14296C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1383C>G MANE Select	ENSP00000395473.2:p.Tyr461Ter
ENST00000221363.8:c.1380C>G	ENSP00000221363.4:p.Tyr460Ter
ENST00000456935.6:c.1383C>G	ENSP00000395473.2:p.Tyr461Ter
ENST00000465830.1:n.547C>G
ENST00000466794.5:n.1282C>G
ENST00000495617.1:n.559C>G
NM_000528.3:c.1383C>G	NP_000519.2:p.Tyr461Ter
NM_001173498.1:c.1380C>G	NP_001166969.1:p.Tyr460Ter
XM_005259913.1:c.1386C>G	XP_005259970.1:p.Tyr462Ter
XM_011528017.1:c.282C>G	XP_011526319.1:p.Tyr94Ter
XM_005259913.2:c.1386C>G	XP_005259970.1:p.Tyr462Ter
XM_024451518.1:c.282C>G	XP_024307286.1:p.Tyr94Ter
NM_000528.4:c.1383C>G MANE Select	NP_000519.2:p.Tyr461Ter
NM_001173498.2:c.1380C>G	NP_001166969.1:p.Tyr460Ter