Canonical Allele Identifier: CA404248377

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769143G>T (hg19) ; chr19:g.12658329G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658329G>T , CM000681.2:g.12658329G>T	GRCh38
NC_000019.9:g.12769143G>T , CM000681.1:g.12769143G>T	GRCh37
NC_000019.8:g.12630143G>T	NCBI36
NG_008318.1:g.13449C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000456935.7:c.1125C>A MANE Select	ENSP00000395473.2:p.Asp375Glu
ENST00000221363.8:c.1122C>A	ENSP00000221363.4:p.Asp374Glu
ENST00000456935.6:c.1125C>A	ENSP00000395473.2:p.Asp375Glu
ENST00000465830.1:n.289C>A
ENST00000466794.5:n.1024C>A
ENST00000495617.1:n.280+402C>A
NM_000528.3:c.1125C>A	NP_000519.2:p.Asp375Glu
NM_001173498.1:c.1122C>A	NP_001166969.1:p.Asp374Glu
XM_005259913.1:c.1128C>A	XP_005259970.1:p.Asp376Glu
XM_011528017.1:c.24C>A	XP_011526319.1:p.Asp8Glu
XM_005259913.2:c.1128C>A	XP_005259970.1:p.Asp376Glu
XM_024451518.1:c.24C>A	XP_024307286.1:p.Asp8Glu
NM_000528.4:c.1125C>A MANE Select	NP_000519.2:p.Asp375Glu
NM_001173498.2:c.1122C>A	NP_001166969.1:p.Asp374Glu