Canonical Allele Identifier: CA2665698291
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2107639729
gnomAD v4: 3-49125511-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125511A>G , CM000665.2:g.49125511A>G GRCh38
NC_000003.11:g.49162944A>G , CM000665.1:g.49162944A>G GRCh37
NC_000003.10:g.49137948A>G NCBI36
NG_008094.1:g.12656T>C
NG_054716.1:g.428T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2489-27T>C MANE Select ENSP00000307156.4:n.2489-27T>C
ENST00000305544.8:c.2489-27T>C ENSP00000307156.4:n.2489-27T>C
ENST00000418109.5:c.2489-27T>C ENSP00000388325.1:n.2489-27T>C
ENST00000464891.5:n.211T>C
ENST00000477701.1:n.362-27T>C
ENST00000483057.1:n.62T>C
ENST00000486298.5:n.426-342T>C
NM_002292.3:c.2489-27T>C NP_002283.3:n.2489-27T>C
XM_005265127.3:c.2489-27T>C XP_005265184.1:n.2489-27T>C
XM_005265127.4:c.2489-27T>C XP_005265184.1:n.2489-27T>C
NM_002292.4:c.2489-27T>C MANE Select NP_002283.3:n.2489-27T>C
Search 100 bp 5'
Search 100 bp 3'