Canonical Allele Identifier: CA2665699693
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49131984-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49131984G>A , CM000665.2:g.49131984G>A GRCh38
NC_000003.11:g.49169417G>A , CM000665.1:g.49169417G>A GRCh37
NC_000003.10:g.49144421G>A NCBI36
NG_008094.1:g.6183C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.459+132C>T MANE Select ENSP00000307156.4:n.459+132C>T
ENST00000305544.8:c.459+132C>T ENSP00000307156.4:n.459+132C>T
ENST00000418109.5:c.459+132C>T ENSP00000388325.1:n.459+132C>T
ENST00000494831.1:c.12+132C>T ENSP00000444751.1:n.12+132C>T
NM_002292.3:c.459+132C>T NP_002283.3:n.459+132C>T
XM_005265127.3:c.459+132C>T XP_005265184.1:n.459+132C>T
XM_005265127.4:c.459+132C>T XP_005265184.1:n.459+132C>T
NM_002292.4:c.459+132C>T MANE Select NP_002283.3:n.459+132C>T
Search 100 bp 5'
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