Canonical Allele Identifier: CA433634139
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122858-G-T
MyVariant Identifiers: chr3:g.49160291G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122858G>T , CM000665.2:g.49122858G>T GRCh38
NC_000003.11:g.49160291G>T , CM000665.1:g.49160291G>T GRCh37
NC_000003.10:g.49135295G>T NCBI36
NG_008094.1:g.15309C>A
NG_054716.1:g.3081C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4419C>A MANE Select ENSP00000307156.4:p.Ile1473=
ENST00000305544.8:c.4419C>A ENSP00000307156.4:p.Ile1473=
ENST00000418109.5:c.4419C>A ENSP00000388325.1:p.Ile1473=
ENST00000469665.1:n.728C>A
NM_002292.3:c.4419C>A NP_002283.3:p.Ile1473=
XM_005265127.3:c.4419C>A XP_005265184.1:p.Ile1473=
XM_005265127.4:c.4419C>A XP_005265184.1:p.Ile1473=
NM_002292.4:c.4419C>A MANE Select NP_002283.3:p.Ile1473=
Search 100 bp 5'
Search 100 bp 3'