Canonical Allele Identifier: CA9226824

Gene: MAN2B1

Linked Data

• dbSNP Id: rs765801028
• ExAC: 19:12776193 C / G
• gnomAD v2: 19-12776193-C-G
• gnomAD v3: 19-12665379-C-G
• gnomAD v4: 19-12665379-C-G
• MyVariant Identifiers: chr19:g.12776193C>G (hg19) ; chr19:g.12665379C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665379C>G , CM000681.2:g.12665379C>G	GRCh38
NC_000019.9:g.12776193C>G , CM000681.1:g.12776193C>G	GRCh37
NC_000019.8:g.12637193C>G	NCBI36
NG_008318.1:g.6399G>C
NG_015814.1:g.3576C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.409G>C MANE Select	ENSP00000395473.2:p.Glu137Gln
ENST00000221363.8:c.409G>C	ENSP00000221363.4:p.Glu137Gln
ENST00000456935.6:c.409G>C	ENSP00000395473.2:p.Glu137Gln
ENST00000466794.5:n.391G>C
ENST00000486847.2:c.306G>C	ENSP00000470174.1:p.Arg102Ser
ENST00000596512.5:n.347G>C
ENST00000597961.1:c.400G>C	ENSP00000472710.1:p.Glu134Gln
ENST00000598876.1:c.436G>C	ENSP00000470533.1:p.Glu146Gln
ENST00000600281.1:n.450G>C
NM_000528.3:c.409G>C	NP_000519.2:p.Glu137Gln
NM_001173498.1:c.409G>C	NP_001166969.1:p.Glu137Gln
XM_005259913.1:c.409G>C	XP_005259970.1:p.Glu137Gln
XM_005259913.2:c.409G>C	XP_005259970.1:p.Glu137Gln
XM_024451518.1:c.-610G>C	XP_024307286.1:n.-610G>C
NM_000528.4:c.409G>C MANE Select	NP_000519.2:p.Glu137Gln
NM_001173498.2:c.409G>C	NP_001166969.1:p.Glu137Gln