Canonical Allele Identifier: CA9226722

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2152452
• ClinVar RCV Id: RCV003061673
• dbSNP Id: rs754932497
• ExAC: 19:12774528 T / A
• gnomAD v2: 19-12774528-T-A
• gnomAD v3: 19-12663714-T-A
• gnomAD v4: 19-12663714-T-A
• MyVariant Identifiers: chr19:g.12774528T>A (hg19) ; chr19:g.12663714T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663714T>A , CM000681.2:g.12663714T>A	GRCh38
NC_000019.9:g.12774528T>A , CM000681.1:g.12774528T>A	GRCh37
NC_000019.8:g.12635528T>A	NCBI36
NG_008318.1:g.8064A>T
NG_015814.1:g.1911T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.752A>T MANE Select	ENSP00000395473.2:p.Asp251Val
ENST00000221363.8:c.752A>T	ENSP00000221363.4:p.Asp251Val
ENST00000456935.6:c.752A>T	ENSP00000395473.2:p.Asp251Val
ENST00000466794.5:n.734A>T
ENST00000486847.2:c.455A>T	ENSP00000470174.1:p.Asp152Val
NM_000528.3:c.752A>T	NP_000519.2:p.Asp251Val
NM_001173498.1:c.752A>T	NP_001166969.1:p.Asp251Val
XM_005259913.1:c.752A>T	XP_005259970.1:p.Asp251Val
XM_005259913.2:c.752A>T	XP_005259970.1:p.Asp251Val
XM_024451518.1:c.-267A>T	XP_024307286.1:n.-267A>T
NM_000528.4:c.752A>T MANE Select	NP_000519.2:p.Asp251Val
NM_001173498.2:c.752A>T	NP_001166969.1:p.Asp251Val