Canonical Allele Identifier: CA9226820

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2201769
• ClinVar RCV Id: RCV002644495 ; RCV002644496
• dbSNP Id: rs759257910
• ExAC: 19:12776180 T / A
• gnomAD v2: 19-12776180-T-A
• gnomAD v4: 19-12665366-T-A
• MyVariant Identifiers: chr19:g.12776180T>A (hg19) ; chr19:g.12665366T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665366T>A , CM000681.2:g.12665366T>A	GRCh38
NC_000019.9:g.12776180T>A , CM000681.1:g.12776180T>A	GRCh37
NC_000019.8:g.12637180T>A	NCBI36
NG_008318.1:g.6412A>T
NG_015814.1:g.3563T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.422A>T MANE Select	ENSP00000395473.2:p.Asp141Val
ENST00000221363.8:c.422A>T	ENSP00000221363.4:p.Asp141Val
ENST00000456935.6:c.422A>T	ENSP00000395473.2:p.Asp141Val
ENST00000466794.5:n.404A>T
ENST00000486847.2:c.319A>T	ENSP00000470174.1:p.Thr107Ser
ENST00000596512.5:n.360A>T
ENST00000597961.1:c.413A>T	ENSP00000472710.1:p.Asp138Val
ENST00000598876.1:c.449A>T	ENSP00000470533.1:p.Asp150Val
ENST00000600281.1:n.463A>T
NM_000528.3:c.422A>T	NP_000519.2:p.Asp141Val
NM_001173498.1:c.422A>T	NP_001166969.1:p.Asp141Val
XM_005259913.1:c.422A>T	XP_005259970.1:p.Asp141Val
XM_005259913.2:c.422A>T	XP_005259970.1:p.Asp141Val
XM_024451518.1:c.-597A>T	XP_024307286.1:n.-597A>T
NM_000528.4:c.422A>T MANE Select	NP_000519.2:p.Asp141Val
NM_001173498.2:c.422A>T	NP_001166969.1:p.Asp141Val