Canonical Allele Identifier: CA2554371972
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49123107-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123107G>T , CM000665.2:g.49123107G>T GRCh38
NC_000003.11:g.49160540G>T , CM000665.1:g.49160540G>T GRCh37
NC_000003.10:g.49135544G>T NCBI36
NG_008094.1:g.15060C>A
NG_054716.1:g.2832C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.4224+25C>A MANE Select ENSP00000307156.4:n.4224+25C>A
ENST00000305544.8:c.4224+25C>A ENSP00000307156.4:n.4224+25C>A
ENST00000418109.5:c.4224+25C>A ENSP00000388325.1:n.4224+25C>A
ENST00000469665.1:n.479C>A
NM_002292.3:c.4224+25C>A NP_002283.3:n.4224+25C>A
XM_005265127.3:c.4224+25C>A XP_005265184.1:n.4224+25C>A
XM_005265127.4:c.4224+25C>A XP_005265184.1:n.4224+25C>A
NM_002292.4:c.4224+25C>A MANE Select NP_002283.3:n.4224+25C>A
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