Canonical Allele Identifier: CA2393809
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1158746
ClinVar RCV Id: RCV001502251
dbSNP Id: rs549450963
ExAC: 3:49160372 C / T
gnomAD v2: 3-49160372-C-T
gnomAD v3: 3-49122939-C-T
gnomAD v4: 3-49122939-C-T
MyVariant Identifiers: chr3:g.49160372C>T (hg19) chr3:g.49122939C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122939C>T , CM000665.2:g.49122939C>T GRCh38
NC_000003.11:g.49160372C>T , CM000665.1:g.49160372C>T GRCh37
NC_000003.10:g.49135376C>T NCBI36
NG_008094.1:g.15228G>A
NG_054716.1:g.3000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4338G>A MANE Select ENSP00000307156.4:p.Ala1446=
ENST00000305544.8:c.4338G>A ENSP00000307156.4:p.Ala1446=
ENST00000418109.5:c.4338G>A ENSP00000388325.1:p.Ala1446=
ENST00000469665.1:n.647G>A
NM_002292.3:c.4338G>A NP_002283.3:p.Ala1446=
XM_005265127.3:c.4338G>A XP_005265184.1:p.Ala1446=
XM_005265127.4:c.4338G>A XP_005265184.1:p.Ala1446=
NM_002292.4:c.4338G>A MANE Select NP_002283.3:p.Ala1446=
Search 100 bp 5'
Search 100 bp 3'