Canonical Allele Identifier: CA2393776
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 345977
ClinVar RCV Id: RCV000315442 RCV000363101
dbSNP Id: rs771769006
ExAC: 3:49160221 T / C
gnomAD v2: 3-49160221-T-C
gnomAD v3: 3-49122788-T-C
gnomAD v4: 3-49122788-T-C
MyVariant Identifiers: chr3:g.49160221T>C (hg19) chr3:g.49122788T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122788T>C , CM000665.2:g.49122788T>C GRCh38
NC_000003.11:g.49160221T>C , CM000665.1:g.49160221T>C GRCh37
NC_000003.10:g.49135225T>C NCBI36
NG_008094.1:g.15379A>G
NG_054716.1:g.3151A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4489A>G MANE Select ENSP00000307156.4:p.Lys1497Glu
ENST00000305544.8:c.4489A>G ENSP00000307156.4:p.Lys1497Glu
ENST00000418109.5:c.4489A>G ENSP00000388325.1:p.Lys1497Glu
ENST00000469665.1:n.798A>G
NM_002292.3:c.4489A>G NP_002283.3:p.Lys1497Glu
XM_005265127.3:c.4489A>G XP_005265184.1:p.Lys1497Glu
XM_005265127.4:c.4489A>G XP_005265184.1:p.Lys1497Glu
NM_002292.4:c.4489A>G MANE Select NP_002283.3:p.Lys1497Glu
Search 100 bp 5'
Search 100 bp 3'