Canonical Allele Identifier: CA2577594546
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49132031-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49132031G>T , CM000665.2:g.49132031G>T GRCh38
NC_000003.11:g.49169464G>T , CM000665.1:g.49169464G>T GRCh37
NC_000003.10:g.49144468G>T NCBI36
NG_008094.1:g.6136C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.459+85C>A MANE Select ENSP00000307156.4:n.459+85C>A
ENST00000305544.8:c.459+85C>A ENSP00000307156.4:n.459+85C>A
ENST00000418109.5:c.459+85C>A ENSP00000388325.1:n.459+85C>A
ENST00000494831.1:c.12+85C>A ENSP00000444751.1:n.12+85C>A
NM_002292.3:c.459+85C>A NP_002283.3:n.459+85C>A
XM_005265127.3:c.459+85C>A XP_005265184.1:n.459+85C>A
XM_005265127.4:c.459+85C>A XP_005265184.1:n.459+85C>A
NM_002292.4:c.459+85C>A MANE Select NP_002283.3:n.459+85C>A
Search 100 bp 5'
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