Canonical Allele Identifier: CA352720909

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162906T>A (hg19) ; chr3:g.49125473T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125473T>A , CM000665.2:g.49125473T>A	GRCh38
NC_000003.11:g.49162906T>A , CM000665.1:g.49162906T>A	GRCh37
NC_000003.10:g.49137910T>A	NCBI36
NG_008094.1:g.12694A>T
NG_054716.1:g.466A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2500A>T MANE Select	ENSP00000307156.4:p.Ser834Cys
ENST00000305544.8:c.2500A>T	ENSP00000307156.4:p.Ser834Cys
ENST00000418109.5:c.2500A>T	ENSP00000388325.1:p.Ser834Cys
ENST00000464891.5:n.249A>T
ENST00000477701.1:n.373A>T
ENST00000483057.1:n.100A>T
ENST00000486298.5:n.426-304A>T
NM_002292.3:c.2500A>T	NP_002283.3:p.Ser834Cys
XM_005265127.3:c.2500A>T	XP_005265184.1:p.Ser834Cys
XM_005265127.4:c.2500A>T	XP_005265184.1:p.Ser834Cys
NM_002292.4:c.2500A>T MANE Select	NP_002283.3:p.Ser834Cys