Canonical Allele Identifier: CA404240901

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12759960A>T (hg19) ; chr19:g.12649146A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12649146A>T , CM000681.2:g.12649146A>T	GRCh38
NC_000019.9:g.12759960A>T , CM000681.1:g.12759960A>T	GRCh37
NC_000019.8:g.12620960A>T	NCBI36
NG_008318.1:g.22632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2426T>A MANE Select	ENSP00000395473.2:p.Leu809Gln
ENST00000221363.8:c.2423T>A	ENSP00000221363.4:p.Leu808Gln
ENST00000456935.6:c.2426T>A	ENSP00000395473.2:p.Leu809Gln
ENST00000466794.5:n.3016T>A
NM_000528.3:c.2426T>A	NP_000519.2:p.Leu809Gln
NM_001173498.1:c.2423T>A	NP_001166969.1:p.Leu808Gln
XM_005259913.1:c.2429T>A	XP_005259970.1:p.Leu810Gln
XM_011528017.1:c.1325T>A	XP_011526319.1:p.Leu442Gln
XM_005259913.2:c.2429T>A	XP_005259970.1:p.Leu810Gln
XM_024451518.1:c.1325T>A	XP_024307286.1:p.Leu442Gln
NM_000528.4:c.2426T>A MANE Select	NP_000519.2:p.Leu809Gln
NM_001173498.2:c.2423T>A	NP_001166969.1:p.Leu808Gln