Canonical Allele Identifier: CA2665697685
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49125203-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125203C>T , CM000665.2:g.49125203C>T GRCh38
NC_000003.11:g.49162636C>T , CM000665.1:g.49162636C>T GRCh37
NC_000003.10:g.49137640C>T NCBI36
NG_008094.1:g.12964G>A
NG_054716.1:g.736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2721-34G>A MANE Select ENSP00000307156.4:n.2721-34G>A
ENST00000305544.8:c.2721-34G>A ENSP00000307156.4:n.2721-34G>A
ENST00000418109.5:c.2721-34G>A ENSP00000388325.1:n.2721-34G>A
ENST00000462930.5:n.128-34G>A
ENST00000464891.5:n.454-34G>A
ENST00000483057.1:n.321-34G>A
ENST00000486298.5:n.426-34G>A
ENST00000542580.1:n.2G>A
NM_002292.3:c.2721-34G>A NP_002283.3:n.2721-34G>A
XM_005265127.3:c.2721-34G>A XP_005265184.1:n.2721-34G>A
XM_005265127.4:c.2721-34G>A XP_005265184.1:n.2721-34G>A
NM_002292.4:c.2721-34G>A MANE Select NP_002283.3:n.2721-34G>A
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