Canonical Allele Identifier: CA9226188

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 439875
• ClinVar RCV Id: RCV000507951 ; RCV001252562 ; RCV001272185 ; RCV003311832 ; RCV004023433
• dbSNP Id: rs148134639
• ExAC: 19:12760922 C / T
• gnomAD v2: 19-12760922-C-T
• gnomAD v3: 19-12650108-C-T
• gnomAD v4: 19-12650108-C-T
• MyVariant Identifiers: chr19:g.12760922C>T (hg19) ; chr19:g.12650108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12650108C>T , CM000681.2:g.12650108C>T	GRCh38
NC_000019.9:g.12760922C>T , CM000681.1:g.12760922C>T	GRCh37
NC_000019.8:g.12621922C>T	NCBI36
NG_008318.1:g.21670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2161G>A MANE Select	ENSP00000395473.2:p.Val721Met
ENST00000221363.8:c.2158G>A	ENSP00000221363.4:p.Val720Met
ENST00000456935.6:c.2161G>A	ENSP00000395473.2:p.Val721Met
ENST00000466794.5:n.2751G>A
NM_000528.3:c.2161G>A	NP_000519.2:p.Val721Met
NM_001173498.1:c.2158G>A	NP_001166969.1:p.Val720Met
XM_005259913.1:c.2164G>A	XP_005259970.1:p.Val722Met
XM_011528017.1:c.1060G>A	XP_011526319.1:p.Val354Met
XM_005259913.2:c.2164G>A	XP_005259970.1:p.Val722Met
XM_024451518.1:c.1060G>A	XP_024307286.1:p.Val354Met
NM_000528.4:c.2161G>A MANE Select	NP_000519.2:p.Val721Met
NM_001173498.2:c.2158G>A	NP_001166969.1:p.Val720Met