Canonical Allele Identifier: CA1363339522
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1575533171

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125226A>C , CM000665.2:g.49125226A>C GRCh38
NC_000003.11:g.49162659A>C , CM000665.1:g.49162659A>C GRCh37
NC_000003.10:g.49137663A>C NCBI36
NG_008094.1:g.12941T>G
NG_054716.1:g.713T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2720+27T>G MANE Select ENSP00000307156.4:n.2720+27T>G
ENST00000305544.8:c.2720+27T>G ENSP00000307156.4:n.2720+27T>G
ENST00000418109.5:c.2720+27T>G ENSP00000388325.1:n.2720+27T>G
ENST00000462930.5:n.127+27T>G
ENST00000464891.5:n.453+43T>G
ENST00000483057.1:n.320+27T>G
ENST00000486298.5:n.426-57T>G
NM_002292.3:c.2720+27T>G NP_002283.3:n.2720+27T>G
XM_005265127.3:c.2720+27T>G XP_005265184.1:n.2720+27T>G
XM_005265127.4:c.2720+27T>G XP_005265184.1:n.2720+27T>G
NM_002292.4:c.2720+27T>G MANE Select NP_002283.3:n.2720+27T>G