Canonical Allele Identifier: CA2393783
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs751687424
gnomAD v2: 3-49160244-T-C
gnomAD v3: 3-49122811-T-C
gnomAD v4: 3-49122811-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122811T>C , CM000665.2:g.49122811T>C GRCh38
NC_000003.11:g.49160244T>C , CM000665.1:g.49160244T>C GRCh37
NC_000003.10:g.49135248T>C NCBI36
NG_008094.1:g.15356A>G
NG_054716.1:g.3128A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4466A>G MANE Select ENSP00000307156.4:p.Gln1489Arg
ENST00000305544.8:c.4466A>G ENSP00000307156.4:p.Gln1489Arg
ENST00000418109.5:c.4466A>G ENSP00000388325.1:p.Gln1489Arg
ENST00000469665.1:n.775A>G
NM_002292.3:c.4466A>G NP_002283.3:p.Gln1489Arg
XM_005265127.3:c.4466A>G XP_005265184.1:p.Gln1489Arg
XM_005265127.4:c.4466A>G XP_005265184.1:p.Gln1489Arg
NM_002292.4:c.4466A>G MANE Select NP_002283.3:p.Gln1489Arg