Canonical Allele Identifier: CA350972

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 208270
• ClinVar RCV Id: RCV000206970 ; RCV001582678
• dbSNP Id: rs747721968
• ExAC: 19:12767789 A / T
• gnomAD v2: 19-12767789-A-T
• gnomAD v3: 19-12656975-A-T
• gnomAD v4: 19-12656975-A-T
• MyVariant Identifiers: chr19:g.12767789A>T (hg19) ; chr19:g.12656975A>T (hg38)
• PubMed: PMID:22161967

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656975A>T , CM000681.2:g.12656975A>T	GRCh38
NC_000019.9:g.12767789A>T , CM000681.1:g.12767789A>T	GRCh37
NC_000019.8:g.12628789A>T	NCBI36
NG_008318.1:g.14803T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1501T>A MANE Select	ENSP00000395473.2:p.Cys501Ser
ENST00000221363.8:c.1498T>A	ENSP00000221363.4:p.Cys500Ser
ENST00000433513.5:n.107T>A
ENST00000456935.6:c.1501T>A	ENSP00000395473.2:p.Cys501Ser
ENST00000466794.5:n.1400T>A
ENST00000495617.1:n.677T>A
ENST00000593686.1:c.111T>A
ENST00000595880.5:n.98T>A
NM_000528.3:c.1501T>A	NP_000519.2:p.Cys501Ser
NM_001173498.1:c.1498T>A	NP_001166969.1:p.Cys500Ser
XM_005259913.1:c.1504T>A	XP_005259970.1:p.Cys502Ser
XM_011528017.1:c.400T>A	XP_011526319.1:p.Cys134Ser
XM_005259913.2:c.1504T>A	XP_005259970.1:p.Cys502Ser
XM_024451518.1:c.400T>A	XP_024307286.1:p.Cys134Ser
NM_000528.4:c.1501T>A MANE Select	NP_000519.2:p.Cys501Ser
NM_001173498.2:c.1498T>A	NP_001166969.1:p.Cys500Ser