Canonical Allele Identifier: CA404247718

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12769040G>T (hg19) ; chr19:g.12658226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658226G>T , CM000681.2:g.12658226G>T	GRCh38
NC_000019.9:g.12769040G>T , CM000681.1:g.12769040G>T	GRCh37
NC_000019.8:g.12630040G>T	NCBI36
NG_008318.1:g.13552C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1228C>A MANE Select	ENSP00000395473.2:p.Gln410Lys
ENST00000221363.8:c.1225C>A	ENSP00000221363.4:p.Gln409Lys
ENST00000456935.6:c.1228C>A	ENSP00000395473.2:p.Gln410Lys
ENST00000465830.1:n.392C>A
ENST00000466794.5:n.1127C>A
ENST00000495617.1:n.281-466C>A
NM_000528.3:c.1228C>A	NP_000519.2:p.Gln410Lys
NM_001173498.1:c.1225C>A	NP_001166969.1:p.Gln409Lys
XM_005259913.1:c.1231C>A	XP_005259970.1:p.Gln411Lys
XM_011528017.1:c.127C>A	XP_011526319.1:p.Gln43Lys
XM_005259913.2:c.1231C>A	XP_005259970.1:p.Gln411Lys
XM_024451518.1:c.127C>A	XP_024307286.1:p.Gln43Lys
NM_000528.4:c.1228C>A MANE Select	NP_000519.2:p.Gln410Lys
NM_001173498.2:c.1225C>A	NP_001166969.1:p.Gln409Lys