Canonical Allele Identifier: CA9226480

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 281152
• ClinVar RCV Id: RCV000301281 ; RCV000723878
• dbSNP Id: rs775200333
• ExAC: 19:12768296 G / T
• gnomAD v2: 19-12768296-G-T
• gnomAD v3: 19-12657482-G-T
• gnomAD v4: 19-12657482-G-T
• MyVariant Identifiers: chr19:g.12768296G>T (hg19) ; chr19:g.12657482G>T (hg38)
• PubMed: PMID:22161967 ; PMID:26048034

Genomic Alleles

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

Transcript Alleles

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