Canonical Allele Identifier: CA2665695245
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122846-C-CGTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122846_49122847insGTGT , CM000665.2:g.49122846_49122847insGTGT GRCh38
NC_000003.11:g.49160279_49160280insGTGT , CM000665.1:g.49160279_49160280insGTGT GRCh37
NC_000003.10:g.49135283_49135284insGTGT NCBI36
NG_008094.1:g.15320_15321insACAC
NG_054716.1:g.3092_3093insACAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4430_4431insACAC MANE Select ENSP00000307156.4:p.Ala1478HisfsTer3
ENST00000305544.8:c.4430_4431insACAC ENSP00000307156.4:p.Ala1478HisfsTer3
ENST00000418109.5:c.4430_4431insACAC ENSP00000388325.1:p.Ala1478HisfsTer3
ENST00000469665.1:n.739_740insACAC
NM_002292.3:c.4430_4431insACAC NP_002283.3:p.Ala1478HisfsTer3
XM_005265127.3:c.4430_4431insACAC XP_005265184.1:p.Ala1478HisfsTer3
XM_005265127.4:c.4430_4431insACAC XP_005265184.1:p.Ala1478HisfsTer3
NM_002292.4:c.4430_4431insACAC MANE Select NP_002283.3:p.Ala1478HisfsTer3
Search 100 bp 5'
Search 100 bp 3'