Canonical Allele Identifier: CA74480984

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 2554080
• ClinVar RCV Id: RCV003293121
• dbSNP Id: rs1055560126
• gnomAD v2: 3-49162819-G-A
• gnomAD v4: 3-49125386-G-A
• MyVariant Identifiers: chr3:g.49162819G>A (hg19) ; chr3:g.49125386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125386G>A , CM000665.2:g.49125386G>A	GRCh38
NC_000003.11:g.49162819G>A , CM000665.1:g.49162819G>A	GRCh37
NC_000003.10:g.49137823G>A	NCBI36
NG_008094.1:g.12781C>T
NG_054716.1:g.553C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2587C>T MANE Select	ENSP00000307156.4:p.Arg863Cys
ENST00000305544.8:c.2587C>T	ENSP00000307156.4:p.Arg863Cys
ENST00000418109.5:c.2587C>T	ENSP00000388325.1:p.Arg863Cys
ENST00000464891.5:n.336C>T
ENST00000477701.1:n.460C>T
ENST00000483057.1:n.187C>T
ENST00000486298.5:n.426-217C>T
NM_002292.3:c.2587C>T	NP_002283.3:p.Arg863Cys
XM_005265127.3:c.2587C>T	XP_005265184.1:p.Arg863Cys
XM_005265127.4:c.2587C>T	XP_005265184.1:p.Arg863Cys
NM_002292.4:c.2587C>T MANE Select	NP_002283.3:p.Arg863Cys