Canonical Allele Identifier: CA2393867
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 472484
dbSNP Id: rs112933248
gnomAD v2: 3-49160671-T-C
gnomAD v3: 3-49123238-T-C
gnomAD v4: 3-49123238-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123238T>C , CM000665.2:g.49123238T>C GRCh38
NC_000003.11:g.49160671T>C , CM000665.1:g.49160671T>C GRCh37
NC_000003.10:g.49135675T>C NCBI36
NG_008094.1:g.14929A>G
NG_054716.1:g.2701A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4118A>G MANE Select ENSP00000307156.4:p.Asp1373Gly
ENST00000305544.8:c.4118A>G ENSP00000307156.4:p.Asp1373Gly
ENST00000418109.5:c.4118A>G ENSP00000388325.1:p.Asp1373Gly
ENST00000469665.1:n.348A>G
NM_002292.3:c.4118A>G NP_002283.3:p.Asp1373Gly
XM_005265127.3:c.4118A>G XP_005265184.1:p.Asp1373Gly
XM_005265127.4:c.4118A>G XP_005265184.1:p.Asp1373Gly
NM_002292.4:c.4118A>G MANE Select NP_002283.3:p.Asp1373Gly