Canonical Allele Identifier: CA9226872

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 3016381
• ClinVar RCV Id: RCV003876532
• dbSNP Id: rs753811983
• ExAC: 19:12776520 C / T
• gnomAD v2: 19-12776520-C-T
• gnomAD v4: 19-12665706-C-T
• MyVariant Identifiers: chr19:g.12776520C>T (hg19) ; chr19:g.12665706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12665706C>T , CM000681.2:g.12665706C>T	GRCh38
NC_000019.9:g.12776520C>T , CM000681.1:g.12776520C>T	GRCh37
NC_000019.8:g.12637520C>T	NCBI36
NG_008318.1:g.6072G>A
NG_015814.1:g.3903C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.259G>A MANE Select	ENSP00000395473.2:p.Gly87Arg
ENST00000221363.8:c.259G>A	ENSP00000221363.4:p.Gly87Arg
ENST00000456935.6:c.259G>A	ENSP00000395473.2:p.Gly87Arg
ENST00000466794.5:n.241G>A
ENST00000486847.2:c.160-181G>A	ENSP00000470174.1:n.160-181G>A
ENST00000596512.5:n.201-181G>A
ENST00000597961.1:c.250G>A	ENSP00000472710.1:p.Gly84Arg
ENST00000598876.1:c.286G>A	ENSP00000470533.1:p.Gly96Arg
ENST00000600281.1:n.300G>A
NM_000528.3:c.259G>A	NP_000519.2:p.Gly87Arg
NM_001173498.1:c.259G>A	NP_001166969.1:p.Gly87Arg
XM_005259913.1:c.259G>A	XP_005259970.1:p.Gly87Arg
XM_005259913.2:c.259G>A	XP_005259970.1:p.Gly87Arg
XM_024451518.1:c.-760G>A	XP_024307286.1:n.-760G>A
NM_000528.4:c.259G>A MANE Select	NP_000519.2:p.Gly87Arg
NM_001173498.2:c.259G>A	NP_001166969.1:p.Gly87Arg