Canonical Allele Identifier: CA2393787
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 662766
ClinVar RCV Id: RCV000820493 RCV002537473
dbSNP Id: rs755963903
ExAC: 3:49160266 G / A
gnomAD v2: 3-49160266-G-A
gnomAD v3: 3-49122833-G-A
gnomAD v4: 3-49122833-G-A
COSMIC: COSM5049741
MyVariant Identifiers: chr3:g.49160266G>A (hg19) chr3:g.49122833G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122833G>A , CM000665.2:g.49122833G>A GRCh38
NC_000003.11:g.49160266G>A , CM000665.1:g.49160266G>A GRCh37
NC_000003.10:g.49135270G>A NCBI36
NG_008094.1:g.15334C>T
NG_054716.1:g.3106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4444C>T MANE Select ENSP00000307156.4:p.Arg1482Trp
ENST00000305544.8:c.4444C>T ENSP00000307156.4:p.Arg1482Trp
ENST00000418109.5:c.4444C>T ENSP00000388325.1:p.Arg1482Trp
ENST00000469665.1:n.753C>T
NM_002292.3:c.4444C>T NP_002283.3:p.Arg1482Trp
XM_005265127.3:c.4444C>T XP_005265184.1:p.Arg1482Trp
XM_005265127.4:c.4444C>T XP_005265184.1:p.Arg1482Trp
NM_002292.4:c.4444C>T MANE Select NP_002283.3:p.Arg1482Trp
Search 100 bp 5'
Search 100 bp 3'