Canonical Allele Identifier: CA9226040

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 1591075
• ClinVar RCV Id: RCV002103958
• dbSNP Id: rs762947868
• ExAC: 19:12759962 C / T
• gnomAD v2: 19-12759962-C-T
• gnomAD v3: 19-12649148-C-T
• gnomAD v4: 19-12649148-C-T
• MyVariant Identifiers: chr19:g.12759962C>T (hg19) ; chr19:g.12649148C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649148C>T , CM000681.2:g.12649148C>T	GRCh38
NC_000019.9:g.12759962C>T , CM000681.1:g.12759962C>T	GRCh37
NC_000019.8:g.12620962C>T	NCBI36
NG_008318.1:g.22630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2424G>A MANE Select	ENSP00000395473.2:p.Ser808=
ENST00000221363.8:c.2421G>A	ENSP00000221363.4:p.Ser807=
ENST00000456935.6:c.2424G>A	ENSP00000395473.2:p.Ser808=
ENST00000466794.5:n.3014G>A
NM_000528.3:c.2424G>A	NP_000519.2:p.Ser808=
NM_001173498.1:c.2421G>A	NP_001166969.1:p.Ser807=
XM_005259913.1:c.2427G>A	XP_005259970.1:p.Ser809=
XM_011528017.1:c.1323G>A	XP_011526319.1:p.Ser441=
XM_005259913.2:c.2427G>A	XP_005259970.1:p.Ser809=
XM_024451518.1:c.1323G>A	XP_024307286.1:p.Ser441=
NM_000528.4:c.2424G>A MANE Select	NP_000519.2:p.Ser808=
NM_001173498.2:c.2421G>A	NP_001166969.1:p.Ser807=