Canonical Allele Identifier: CA543048543
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1465073423
gnomAD v2: 3-49160296-TAC-T
gnomAD v4: 3-49122863-TAC-T
MyVariant Identifiers: chr3:g.49160297_49160298del (hg19) chr3:g.49122864_49122865del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122864_49122865del , CM000665.2:g.49122864_49122865del GRCh38
NC_000003.11:g.49160297_49160298del , CM000665.1:g.49160297_49160298del GRCh37
NC_000003.10:g.49135301_49135302del NCBI36
NG_008094.1:g.15302_15303del
NG_054716.1:g.3074_3075del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4412_4413del MANE Select ENSP00000307156.4:p.Gly1471GlufsTer8
ENST00000305544.8:c.4412_4413del ENSP00000307156.4:p.Gly1471GlufsTer8
ENST00000418109.5:c.4412_4413del ENSP00000388325.1:p.Gly1471GlufsTer8
ENST00000469665.1:n.721_722del
NM_002292.3:c.4412_4413del NP_002283.3:p.Gly1471GlufsTer8
XM_005265127.3:c.4412_4413del XP_005265184.1:p.Gly1471GlufsTer8
XM_005265127.4:c.4412_4413del XP_005265184.1:p.Gly1471GlufsTer8
NM_002292.4:c.4412_4413del MANE Select NP_002283.3:p.Gly1471GlufsTer8
Search 100 bp 5'
Search 100 bp 3'