Canonical Allele Identifier: CA9226422

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 2145938
• ClinVar RCV Id: RCV003066874
• dbSNP Id: rs766228737
• ExAC: 19:12767765 G / A
• gnomAD v2: 19-12767765-G-A
• gnomAD v3: 19-12656951-G-A
• gnomAD v4: 19-12656951-G-A
• MyVariant Identifiers: chr19:g.12767765G>A (hg19) ; chr19:g.12656951G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12656951G>A , CM000681.2:g.12656951G>A	GRCh38
NC_000019.9:g.12767765G>A , CM000681.1:g.12767765G>A	GRCh37
NC_000019.8:g.12628765G>A	NCBI36
NG_008318.1:g.14827C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1525C>T MANE Select	ENSP00000395473.2:p.Arg509Cys
ENST00000221363.8:c.1522C>T	ENSP00000221363.4:p.Arg508Cys
ENST00000433513.5:n.131C>T
ENST00000456935.6:c.1525C>T	ENSP00000395473.2:p.Arg509Cys
ENST00000466794.5:n.1424C>T
ENST00000495617.1:n.701C>T
ENST00000593686.1:c.135C>T
ENST00000595880.5:n.122C>T
NM_000528.3:c.1525C>T	NP_000519.2:p.Arg509Cys
NM_001173498.1:c.1522C>T	NP_001166969.1:p.Arg508Cys
XM_005259913.1:c.1528C>T	XP_005259970.1:p.Arg510Cys
XM_011528017.1:c.424C>T	XP_011526319.1:p.Arg142Cys
XM_005259913.2:c.1528C>T	XP_005259970.1:p.Arg510Cys
XM_024451518.1:c.424C>T	XP_024307286.1:p.Arg142Cys
NM_000528.4:c.1525C>T MANE Select	NP_000519.2:p.Arg509Cys
NM_001173498.2:c.1522C>T	NP_001166969.1:p.Arg508Cys