Canonical Allele Identifier: CA2393848
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151355
ClinVar RCV Id: RCV003083669
dbSNP Id: rs751507627
ExAC: 3:49160577 G / T
gnomAD v2: 3-49160577-G-T
gnomAD v4: 3-49123144-G-T
MyVariant Identifiers: chr3:g.49160577G>T (hg19) chr3:g.49123144G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123144G>T , CM000665.2:g.49123144G>T GRCh38
NC_000003.11:g.49160577G>T , CM000665.1:g.49160577G>T GRCh37
NC_000003.10:g.49135581G>T NCBI36
NG_008094.1:g.15023C>A
NG_054716.1:g.2795C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4212C>A MANE Select ENSP00000307156.4:p.Asp1404Glu
ENST00000305544.8:c.4212C>A ENSP00000307156.4:p.Asp1404Glu
ENST00000418109.5:c.4212C>A ENSP00000388325.1:p.Asp1404Glu
ENST00000469665.1:n.442C>A
NM_002292.3:c.4212C>A NP_002283.3:p.Asp1404Glu
XM_005265127.3:c.4212C>A XP_005265184.1:p.Asp1404Glu
XM_005265127.4:c.4212C>A XP_005265184.1:p.Asp1404Glu
NM_002292.4:c.4212C>A MANE Select NP_002283.3:p.Asp1404Glu
Search 100 bp 5'
Search 100 bp 3'