Canonical Allele Identifier: CA9226656

Gene: MAN2B1

Linked Data

• dbSNP Id: rs766861806
• ExAC: 19:12772177 C / G
• gnomAD v2: 19-12772177-C-G
• gnomAD v4: 19-12661363-C-G
• MyVariant Identifiers: chr19:g.12772177C>G (hg19) ; chr19:g.12661363C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12661363C>G , CM000681.2:g.12661363C>G	GRCh38
NC_000019.9:g.12772177C>G , CM000681.1:g.12772177C>G	GRCh37
NC_000019.8:g.12633177C>G	NCBI36
NG_008318.1:g.10415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.923G>C MANE Select	ENSP00000395473.2:p.Arg308Pro
ENST00000221363.8:c.923G>C	ENSP00000221363.4:p.Arg308Pro
ENST00000456935.6:c.923G>C	ENSP00000395473.2:p.Arg308Pro
ENST00000462144.1:n.116G>C
ENST00000466794.5:n.905G>C
NM_000528.3:c.923G>C	NP_000519.2:p.Arg308Pro
NM_001173498.1:c.923G>C	NP_001166969.1:p.Arg308Pro
XM_005259913.1:c.923G>C	XP_005259970.1:p.Arg308Pro
XM_011528017.1:c.-96G>C	XP_011526319.1:n.-96G>C
XM_005259913.2:c.923G>C	XP_005259970.1:p.Arg308Pro
XM_024451518.1:c.-96G>C	XP_024307286.1:n.-96G>C
NM_000528.4:c.923G>C MANE Select	NP_000519.2:p.Arg308Pro
NM_001173498.2:c.923G>C	NP_001166969.1:p.Arg308Pro