Canonical Allele Identifier: CA74476363
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1904293
ClinVar RCV Id: RCV002577589
dbSNP Id: rs1044659312
gnomAD v4: 3-49122835-C-T
COSMIC: COSM6301046
MyVariant Identifiers: chr3:g.49160268C>T (hg19) chr3:g.49122835C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122835C>T , CM000665.2:g.49122835C>T GRCh38
NC_000003.11:g.49160268C>T , CM000665.1:g.49160268C>T GRCh37
NC_000003.10:g.49135272C>T NCBI36
NG_008094.1:g.15332G>A
NG_054716.1:g.3104G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4442G>A MANE Select ENSP00000307156.4:p.Arg1481His
ENST00000305544.8:c.4442G>A ENSP00000307156.4:p.Arg1481His
ENST00000418109.5:c.4442G>A ENSP00000388325.1:p.Arg1481His
ENST00000469665.1:n.751G>A
NM_002292.3:c.4442G>A NP_002283.3:p.Arg1481His
XM_005265127.3:c.4442G>A XP_005265184.1:p.Arg1481His
XM_005265127.4:c.4442G>A XP_005265184.1:p.Arg1481His
NM_002292.4:c.4442G>A MANE Select NP_002283.3:p.Arg1481His
Search 100 bp 5'
Search 100 bp 3'