Canonical Allele Identifier: CA352720747

Gene: LAMB2

Linked Data

• dbSNP Id: rs1405828703
• gnomAD v2: 3-49162890-A-T
• MyVariant Identifiers: chr3:g.49162890A>T (hg19) ; chr3:g.49125457A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125457A>T , CM000665.2:g.49125457A>T	GRCh38
NC_000003.11:g.49162890A>T , CM000665.1:g.49162890A>T	GRCh37
NC_000003.10:g.49137894A>T	NCBI36
NG_008094.1:g.12710T>A
NG_054716.1:g.482T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2516T>A MANE Select	ENSP00000307156.4:p.Leu839His
ENST00000305544.8:c.2516T>A	ENSP00000307156.4:p.Leu839His
ENST00000418109.5:c.2516T>A	ENSP00000388325.1:p.Leu839His
ENST00000464891.5:n.265T>A
ENST00000477701.1:n.389T>A
ENST00000483057.1:n.116T>A
ENST00000486298.5:n.426-288T>A
NM_002292.3:c.2516T>A	NP_002283.3:p.Leu839His
XM_005265127.3:c.2516T>A	XP_005265184.1:p.Leu839His
XM_005265127.4:c.2516T>A	XP_005265184.1:p.Leu839His
NM_002292.4:c.2516T>A MANE Select	NP_002283.3:p.Leu839His