Canonical Allele Identifier: CA2665695475
Gene: LAMB2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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