Canonical Allele Identifier: CA2394016
Gene: LAMB2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49123978T>C
GRCh37 chr3:g.49161411T>C
Revel Score:
ENST00000418109 0.034
ENST00000305544 (MANE Select) 0.034
gnomAD v2:
3:49161411 T / C
gnomAD v3:
3:49123978 T / C
gnomAD v4:
chr3-49123978-T-C
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000575 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123978T>C , CM000665.2:g.49123978T>C GRCh38
NC_000003.11:g.49161411T>C , CM000665.1:g.49161411T>C GRCh37
NC_000003.10:g.49136415T>C NCBI36
NG_008094.1:g.14189A>G
NG_054716.1:g.1961A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.3547A>G MANE Select ENSP00000307156.4:p.Ile1183Val
ENST00000305544.8:c.3547A>G ENSP00000307156.4:p.Ile1183Val
ENST00000418109.5:c.3547A>G ENSP00000388325.1:p.Ile1183Val
ENST00000480640.1:n.305A>G
ENST00000538659.1:n.557A>G
NM_002292.3:c.3547A>G NP_002283.3:p.Ile1183Val
XM_005265127.3:c.3547A>G XP_005265184.1:p.Ile1183Val
XM_005265127.4:c.3547A>G XP_005265184.1:p.Ile1183Val
NM_002292.4:c.3547A>G MANE Select NP_002283.3:p.Ile1183Val
Search 100 bp 5'
Search 100 bp 3'