Canonical Allele Identifier: CA352720186

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 2001175
• ClinVar RCV Id: RCV002810986
• MyVariant Identifiers: chr3:g.49162854A>G (hg19) ; chr3:g.49125421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125421A>G , CM000665.2:g.49125421A>G	GRCh38
NC_000003.11:g.49162854A>G , CM000665.1:g.49162854A>G	GRCh37
NC_000003.10:g.49137858A>G	NCBI36
NG_008094.1:g.12746T>C
NG_054716.1:g.518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2552T>C MANE Select	ENSP00000307156.4:p.Leu851Pro
ENST00000305544.8:c.2552T>C	ENSP00000307156.4:p.Leu851Pro
ENST00000418109.5:c.2552T>C	ENSP00000388325.1:p.Leu851Pro
ENST00000464891.5:n.301T>C
ENST00000477701.1:n.425T>C
ENST00000483057.1:n.152T>C
ENST00000486298.5:n.426-252T>C
NM_002292.3:c.2552T>C	NP_002283.3:p.Leu851Pro
XM_005265127.3:c.2552T>C	XP_005265184.1:p.Leu851Pro
XM_005265127.4:c.2552T>C	XP_005265184.1:p.Leu851Pro
NM_002292.4:c.2552T>C MANE Select	NP_002283.3:p.Leu851Pro