Canonical Allele Identifier: CA221076

Gene: MAN2B1

Linked Data

• ClinVar Variation Id: 93208
• ClinVar RCV Id: RCV000079071
• dbSNP Id: rs398123452
• MyVariant Identifiers: chr19:g.12769045A>T (hg19) ; chr19:g.12658231A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12658231A>T , CM000681.2:g.12658231A>T	GRCh38
NC_000019.9:g.12769045A>T , CM000681.1:g.12769045A>T	GRCh37
NC_000019.8:g.12630045A>T	NCBI36
NG_008318.1:g.13547T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.1223T>A MANE Select	ENSP00000395473.2:p.Phe408Tyr
ENST00000221363.8:c.1220T>A	ENSP00000221363.4:p.Phe407Tyr
ENST00000456935.6:c.1223T>A	ENSP00000395473.2:p.Phe408Tyr
ENST00000465830.1:n.387T>A
ENST00000466794.5:n.1122T>A
ENST00000495617.1:n.281-471T>A
NM_000528.3:c.1223T>A	NP_000519.2:p.Phe408Tyr
NM_001173498.1:c.1220T>A	NP_001166969.1:p.Phe407Tyr
XM_005259913.1:c.1226T>A	XP_005259970.1:p.Phe409Tyr
XM_011528017.1:c.122T>A	XP_011526319.1:p.Phe41Tyr
XM_005259913.2:c.1226T>A	XP_005259970.1:p.Phe409Tyr
XM_024451518.1:c.122T>A	XP_024307286.1:p.Phe41Tyr
NM_000528.4:c.1223T>A MANE Select	NP_000519.2:p.Phe408Tyr
NM_001173498.2:c.1220T>A	NP_001166969.1:p.Phe407Tyr