Canonical Allele Identifier: CA2665695227
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122842-C-CGTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122842_49122843insGTGT , CM000665.2:g.49122842_49122843insGTGT GRCh38
NC_000003.11:g.49160275_49160276insGTGT , CM000665.1:g.49160275_49160276insGTGT GRCh37
NC_000003.10:g.49135279_49135280insGTGT NCBI36
NG_008094.1:g.15324_15325insACAC
NG_054716.1:g.3096_3097insACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4434_4435insACAC MANE Select ENSP00000307156.4:p.Glu1479ThrfsTer22
ENST00000305544.8:c.4434_4435insACAC ENSP00000307156.4:p.Glu1479ThrfsTer22
ENST00000418109.5:c.4434_4435insACAC ENSP00000388325.1:p.Glu1479ThrfsTer22
ENST00000469665.1:n.743_744insACAC
NM_002292.3:c.4434_4435insACAC NP_002283.3:p.Glu1479ThrfsTer22
XM_005265127.3:c.4434_4435insACAC XP_005265184.1:p.Glu1479ThrfsTer22
XM_005265127.4:c.4434_4435insACAC XP_005265184.1:p.Glu1479ThrfsTer22
NM_002292.4:c.4434_4435insACAC MANE Select NP_002283.3:p.Glu1479ThrfsTer22
Search 100 bp 5'
Search 100 bp 3'