Canonical Allele Identifier: CA2665695209
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122837-AGTCTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122838_49122842del , CM000665.2:g.49122838_49122842del GRCh38
NC_000003.11:g.49160271_49160275del , CM000665.1:g.49160271_49160275del GRCh37
NC_000003.10:g.49135275_49135279del NCBI36
NG_008094.1:g.15325_15329del
NG_054716.1:g.3097_3101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4435_4439del MANE Select ENSP00000307156.4:p.Glu1479SerfsTer19
ENST00000305544.8:c.4435_4439del ENSP00000307156.4:p.Glu1479SerfsTer19
ENST00000418109.5:c.4435_4439del ENSP00000388325.1:p.Glu1479SerfsTer19
ENST00000469665.1:n.744_748del
NM_002292.3:c.4435_4439del NP_002283.3:p.Glu1479SerfsTer19
XM_005265127.3:c.4435_4439del XP_005265184.1:p.Glu1479SerfsTer19
XM_005265127.4:c.4435_4439del XP_005265184.1:p.Glu1479SerfsTer19
NM_002292.4:c.4435_4439del MANE Select NP_002283.3:p.Glu1479SerfsTer19
Search 100 bp 5'
Search 100 bp 3'