Canonical Allele Identifier: CA2665698241
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49125460-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125465dup , CM000665.2:g.49125465dup GRCh38
NC_000003.11:g.49162898dup , CM000665.1:g.49162898dup GRCh37
NC_000003.10:g.49137902dup NCBI36
NG_008094.1:g.12706dup
NG_054716.1:g.478dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2512dup MANE Select ENSP00000307156.4:p.Ala838GlyfsTer7
ENST00000305544.8:c.2512dup ENSP00000307156.4:p.Ala838GlyfsTer7
ENST00000418109.5:c.2512dup ENSP00000388325.1:p.Ala838GlyfsTer7
ENST00000464891.5:n.261dup
ENST00000477701.1:n.385dup
ENST00000483057.1:n.112dup
ENST00000486298.5:n.426-292dup
NM_002292.3:c.2512dup NP_002283.3:p.Ala838GlyfsTer7
XM_005265127.3:c.2512dup XP_005265184.1:p.Ala838GlyfsTer7
XM_005265127.4:c.2512dup XP_005265184.1:p.Ala838GlyfsTer7
NM_002292.4:c.2512dup MANE Select NP_002283.3:p.Ala838GlyfsTer7
Search 100 bp 5'
Search 100 bp 3'