Canonical Allele Identifier: CA352716878

Gene: LAMB2

Linked Data

• MyVariant Identifiers: chr3:g.49162543C>T (hg19) ; chr3:g.49125110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125110C>T , CM000665.2:g.49125110C>T	GRCh38
NC_000003.11:g.49162543C>T , CM000665.1:g.49162543C>T	GRCh37
NC_000003.10:g.49137547C>T	NCBI36
NG_008094.1:g.13057G>A
NG_054716.1:g.829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2780G>A MANE Select	ENSP00000307156.4:p.Cys927Tyr
ENST00000305544.8:c.2780G>A	ENSP00000307156.4:p.Cys927Tyr
ENST00000418109.5:c.2780G>A	ENSP00000388325.1:p.Cys927Tyr
ENST00000462930.5:n.187G>A
ENST00000464891.5:n.513G>A
ENST00000483057.1:n.380G>A
ENST00000486298.5:n.485G>A
ENST00000542580.1:n.95G>A
NM_002292.3:c.2780G>A	NP_002283.3:p.Cys927Tyr
XM_005265127.3:c.2780G>A	XP_005265184.1:p.Cys927Tyr
XM_005265127.4:c.2780G>A	XP_005265184.1:p.Cys927Tyr
NM_002292.4:c.2780G>A MANE Select	NP_002283.3:p.Cys927Tyr