Canonical Allele Identifier: CA74481060
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 901508
dbSNP Id: rs547498421
gnomAD v2: 3-49162900-C-T
gnomAD v4: 3-49125467-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125467C>T , CM000665.2:g.49125467C>T GRCh38
NC_000003.11:g.49162900C>T , CM000665.1:g.49162900C>T GRCh37
NC_000003.10:g.49137904C>T NCBI36
NG_008094.1:g.12700G>A
NG_054716.1:g.472G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2506G>A MANE Select ENSP00000307156.4:p.Glu836Lys
ENST00000305544.8:c.2506G>A ENSP00000307156.4:p.Glu836Lys
ENST00000418109.5:c.2506G>A ENSP00000388325.1:p.Glu836Lys
ENST00000464891.5:n.255G>A
ENST00000477701.1:n.379G>A
ENST00000483057.1:n.106G>A
ENST00000486298.5:n.426-298G>A
NM_002292.3:c.2506G>A NP_002283.3:p.Glu836Lys
XM_005265127.3:c.2506G>A XP_005265184.1:p.Glu836Lys
XM_005265127.4:c.2506G>A XP_005265184.1:p.Glu836Lys
NM_002292.4:c.2506G>A MANE Select NP_002283.3:p.Glu836Lys