Canonical Allele Identifier: CA352716861

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162542A>T (hg19) ; chr3:g.49125109A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125109A>T , CM000665.2:g.49125109A>T	GRCh38
NC_000003.11:g.49162542A>T , CM000665.1:g.49162542A>T	GRCh37
NC_000003.10:g.49137546A>T	NCBI36
NG_008094.1:g.13058T>A
NG_054716.1:g.830T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2781T>A MANE Select	ENSP00000307156.4:p.Cys927Ter
ENST00000305544.8:c.2781T>A	ENSP00000307156.4:p.Cys927Ter
ENST00000418109.5:c.2781T>A	ENSP00000388325.1:p.Cys927Ter
ENST00000462930.5:n.188T>A
ENST00000464891.5:n.514T>A
ENST00000483057.1:n.381T>A
ENST00000486298.5:n.486T>A
ENST00000542580.1:n.96T>A
NM_002292.3:c.2781T>A	NP_002283.3:p.Cys927Ter
XM_005265127.3:c.2781T>A	XP_005265184.1:p.Cys927Ter
XM_005265127.4:c.2781T>A	XP_005265184.1:p.Cys927Ter
NM_002292.4:c.2781T>A MANE Select	NP_002283.3:p.Cys927Ter