Canonical Allele Identifier: CA352720759
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125458G>C , CM000665.2:g.49125458G>C GRCh38
NC_000003.11:g.49162891G>C , CM000665.1:g.49162891G>C GRCh37
NC_000003.10:g.49137895G>C NCBI36
NG_008094.1:g.12709C>G
NG_054716.1:g.481C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2515C>G MANE Select ENSP00000307156.4:p.Leu839Val
ENST00000305544.8:c.2515C>G ENSP00000307156.4:p.Leu839Val
ENST00000418109.5:c.2515C>G ENSP00000388325.1:p.Leu839Val
ENST00000464891.5:n.264C>G
ENST00000477701.1:n.388C>G
ENST00000483057.1:n.115C>G
ENST00000486298.5:n.426-289C>G
NM_002292.3:c.2515C>G NP_002283.3:p.Leu839Val
XM_005265127.3:c.2515C>G XP_005265184.1:p.Leu839Val
XM_005265127.4:c.2515C>G XP_005265184.1:p.Leu839Val
NM_002292.4:c.2515C>G MANE Select NP_002283.3:p.Leu839Val