Canonical Allele Identifier: CA404246466

Gene: MAN2B1

Linked Data

• MyVariant Identifiers: chr19:g.12767852G>T (hg19) ; chr19:g.12657038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12657038G>T , CM000681.2:g.12657038G>T	GRCh38
NC_000019.9:g.12767852G>T , CM000681.1:g.12767852G>T	GRCh37
NC_000019.8:g.12628852G>T	NCBI36
NG_008318.1:g.14740C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1438C>A MANE Select	ENSP00000395473.2:p.Leu480Met
ENST00000221363.8:c.1435C>A	ENSP00000221363.4:p.Leu479Met
ENST00000433513.5:n.44C>A
ENST00000456935.6:c.1438C>A	ENSP00000395473.2:p.Leu480Met
ENST00000466794.5:n.1337C>A
ENST00000495617.1:n.614C>A
ENST00000593686.1:c.48C>A
ENST00000595880.5:n.35C>A
NM_000528.3:c.1438C>A	NP_000519.2:p.Leu480Met
NM_001173498.1:c.1435C>A	NP_001166969.1:p.Leu479Met
XM_005259913.1:c.1441C>A	XP_005259970.1:p.Leu481Met
XM_011528017.1:c.337C>A	XP_011526319.1:p.Leu113Met
XM_005259913.2:c.1441C>A	XP_005259970.1:p.Leu481Met
XM_024451518.1:c.337C>A	XP_024307286.1:p.Leu113Met
NM_000528.4:c.1438C>A MANE Select	NP_000519.2:p.Leu480Met
NM_001173498.2:c.1435C>A	NP_001166969.1:p.Leu479Met