Canonical Allele Identifier: CA2393866
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs761768465
ExAC: 3:49160660 CCTT / C
gnomAD v2: 3-49160660-CCTT-C
gnomAD v3: 3-49123227-CCTT-C
gnomAD v4: 3-49123227-CCTT-C
MyVariant Identifiers: chr3:g.49160661_49160663del (hg19) chr3:g.49123228_49123230del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123230_49123232del , CM000665.2:g.49123230_49123232del GRCh38
NC_000003.11:g.49160663_49160665del , CM000665.1:g.49160663_49160665del GRCh37
NC_000003.10:g.49135667_49135669del NCBI36
NG_008094.1:g.14937_14939del
NG_054716.1:g.2709_2711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4126_4128del MANE Select ENSP00000307156.4:p.Lys1376del
ENST00000305544.8:c.4126_4128del ENSP00000307156.4:p.Lys1376del
ENST00000418109.5:c.4126_4128del ENSP00000388325.1:p.Lys1376del
ENST00000469665.1:n.356_358del
NM_002292.3:c.4126_4128del NP_002283.3:p.Lys1376del
XM_005265127.3:c.4126_4128del XP_005265184.1:p.Lys1376del
XM_005265127.4:c.4126_4128del XP_005265184.1:p.Lys1376del
NM_002292.4:c.4126_4128del MANE Select NP_002283.3:p.Lys1376del
Search 100 bp 5'
Search 100 bp 3'