Canonical Allele Identifier: CA2394237
Gene: LAMB2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49125240G>T
GRCh37 chr3:g.49162673G>T
gnomAD v2:
3:49162673 G / T
gnomAD v3:
3:49125240 G / T
gnomAD v4:
chr3-49125240-G-T
Joint Max Group AF 0.00002665 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002711 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125240G>T , CM000665.2:g.49125240G>T GRCh38
NC_000003.11:g.49162673G>T , CM000665.1:g.49162673G>T GRCh37
NC_000003.10:g.49137677G>T NCBI36
NG_008094.1:g.12927C>A
NG_054716.1:g.699C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2720+13C>A MANE Select ENSP00000307156.4:n.2720+13C>A
ENST00000305544.8:c.2720+13C>A ENSP00000307156.4:n.2720+13C>A
ENST00000418109.5:c.2720+13C>A ENSP00000388325.1:n.2720+13C>A
ENST00000462930.5:n.127+13C>A
ENST00000464891.5:n.453+29C>A
ENST00000483057.1:n.320+13C>A
ENST00000486298.5:n.426-71C>A
NM_002292.3:c.2720+13C>A NP_002283.3:n.2720+13C>A
XM_005265127.3:c.2720+13C>A XP_005265184.1:n.2720+13C>A
XM_005265127.4:c.2720+13C>A XP_005265184.1:n.2720+13C>A
NM_002292.4:c.2720+13C>A MANE Select NP_002283.3:n.2720+13C>A
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