Canonical Allele Identifier: CA404253010

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1364819
• ClinVar RCV Id: RCV001942504
• dbSNP Id: rs1310537291
• gnomAD v3: 19-12663807-C-T
• gnomAD v4: 19-12663807-C-T
• MyVariant Identifiers: chr19:g.12774621C>T (hg19) ; chr19:g.12663807C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12663807C>T , CM000681.2:g.12663807C>T	GRCh38
NC_000019.9:g.12774621C>T , CM000681.1:g.12774621C>T	GRCh37
NC_000019.8:g.12635621C>T	NCBI36
NG_008318.1:g.7971G>A
NG_015814.1:g.2004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.659G>A MANE Select	ENSP00000395473.2:p.Arg220His
ENST00000221363.8:c.659G>A	ENSP00000221363.4:p.Arg220His
ENST00000456935.6:c.659G>A	ENSP00000395473.2:p.Arg220His
ENST00000466794.5:n.641G>A
ENST00000486847.2:c.362G>A	ENSP00000470174.1:p.Arg121His
NM_000528.3:c.659G>A	NP_000519.2:p.Arg220His
NM_001173498.1:c.659G>A	NP_001166969.1:p.Arg220His
XM_005259913.1:c.659G>A	XP_005259970.1:p.Arg220His
XM_005259913.2:c.659G>A	XP_005259970.1:p.Arg220His
XM_024451518.1:c.-360G>A	XP_024307286.1:n.-360G>A
NM_000528.4:c.659G>A MANE Select	NP_000519.2:p.Arg220His
NM_001173498.2:c.659G>A	NP_001166969.1:p.Arg220His