Canonical Allele Identifier: CA404246407

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767836C>T (hg19) ; chr19:g.12657022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657022C>T , CM000681.2:g.12657022C>T	GRCh38
NC_000019.9:g.12767836C>T , CM000681.1:g.12767836C>T	GRCh37
NC_000019.8:g.12628836C>T	NCBI36
NG_008318.1:g.14756G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1454G>A MANE Select	ENSP00000395473.2:p.Gly485Asp
ENST00000221363.8:c.1451G>A	ENSP00000221363.4:p.Gly484Asp
ENST00000433513.5:n.60G>A
ENST00000456935.6:c.1454G>A	ENSP00000395473.2:p.Gly485Asp
ENST00000466794.5:n.1353G>A
ENST00000495617.1:n.630G>A
ENST00000593686.1:c.64G>A
ENST00000595880.5:n.51G>A
NM_000528.3:c.1454G>A	NP_000519.2:p.Gly485Asp
NM_001173498.1:c.1451G>A	NP_001166969.1:p.Gly484Asp
XM_005259913.1:c.1457G>A	XP_005259970.1:p.Gly486Asp
XM_011528017.1:c.353G>A	XP_011526319.1:p.Gly118Asp
XM_005259913.2:c.1457G>A	XP_005259970.1:p.Gly486Asp
XM_024451518.1:c.353G>A	XP_024307286.1:p.Gly118Asp
NM_000528.4:c.1454G>A MANE Select	NP_000519.2:p.Gly485Asp
NM_001173498.2:c.1451G>A	NP_001166969.1:p.Gly484Asp