Canonical Allele Identifier: CA9226825

Gene: MAN2B1

Linked Data

• dbSNP Id: rs750760521
• ExAC: 19:12776195 T / C
• gnomAD v2: 19-12776195-T-C
• gnomAD v3: 19-12665381-T-C
• gnomAD v4: 19-12665381-T-C
• MyVariant Identifiers: chr19:g.12776195T>C (hg19) ; chr19:g.12665381T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665381T>C , CM000681.2:g.12665381T>C	GRCh38
NC_000019.9:g.12776195T>C , CM000681.1:g.12776195T>C	GRCh37
NC_000019.8:g.12637195T>C	NCBI36
NG_008318.1:g.6397A>G
NG_015814.1:g.3578T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.407A>G MANE Select	ENSP00000395473.2:p.Gln136Arg
ENST00000221363.8:c.407A>G	ENSP00000221363.4:p.Gln136Arg
ENST00000456935.6:c.407A>G	ENSP00000395473.2:p.Gln136Arg
ENST00000466794.5:n.389A>G
ENST00000486847.2:c.304A>G	ENSP00000470174.1:p.Arg102Gly
ENST00000596512.5:n.345A>G
ENST00000597961.1:c.398A>G	ENSP00000472710.1:p.Gln133Arg
ENST00000598876.1:c.434A>G	ENSP00000470533.1:p.Gln145Arg
ENST00000600281.1:n.448A>G
NM_000528.3:c.407A>G	NP_000519.2:p.Gln136Arg
NM_001173498.1:c.407A>G	NP_001166969.1:p.Gln136Arg
XM_005259913.1:c.407A>G	XP_005259970.1:p.Gln136Arg
XM_005259913.2:c.407A>G	XP_005259970.1:p.Gln136Arg
XM_024451518.1:c.-612A>G	XP_024307286.1:n.-612A>G
NM_000528.4:c.407A>G MANE Select	NP_000519.2:p.Gln136Arg
NM_001173498.2:c.407A>G	NP_001166969.1:p.Gln136Arg