Canonical Allele Identifier: CA352715857
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125030A>C , CM000665.2:g.49125030A>C GRCh38
NC_000003.11:g.49162463A>C , CM000665.1:g.49162463A>C GRCh37
NC_000003.10:g.49137467A>C NCBI36
NG_008094.1:g.13137T>G
NG_054716.1:g.909T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2860T>G MANE Select ENSP00000307156.4:p.Cys954Gly
ENST00000305544.8:c.2860T>G ENSP00000307156.4:p.Cys954Gly
ENST00000418109.5:c.2860T>G ENSP00000388325.1:p.Cys954Gly
ENST00000462930.5:n.267T>G
ENST00000464891.5:n.593T>G
ENST00000483057.1:n.460T>G
ENST00000486298.5:n.565T>G
ENST00000542580.1:n.175T>G
NM_002292.3:c.2860T>G NP_002283.3:p.Cys954Gly
XM_005265127.3:c.2860T>G XP_005265184.1:p.Cys954Gly
XM_005265127.4:c.2860T>G XP_005265184.1:p.Cys954Gly
NM_002292.4:c.2860T>G MANE Select NP_002283.3:p.Cys954Gly