Canonical Allele Identifier: CA2393803
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 450393
dbSNP Id: rs148818522
gnomAD v2: 3-49160340-C-T
gnomAD v3: 3-49122907-C-T
gnomAD v4: 3-49122907-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122907C>T , CM000665.2:g.49122907C>T GRCh38
NC_000003.11:g.49160340C>T , CM000665.1:g.49160340C>T GRCh37
NC_000003.10:g.49135344C>T NCBI36
NG_008094.1:g.15260G>A
NG_054716.1:g.3032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4370G>A MANE Select ENSP00000307156.4:p.Arg1457Gln
ENST00000305544.8:c.4370G>A ENSP00000307156.4:p.Arg1457Gln
ENST00000418109.5:c.4370G>A ENSP00000388325.1:p.Arg1457Gln
ENST00000469665.1:n.679G>A
NM_002292.3:c.4370G>A NP_002283.3:p.Arg1457Gln
XM_005265127.3:c.4370G>A XP_005265184.1:p.Arg1457Gln
XM_005265127.4:c.4370G>A XP_005265184.1:p.Arg1457Gln
NM_002292.4:c.4370G>A MANE Select NP_002283.3:p.Arg1457Gln