Canonical Allele Identifier: CA352691180
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449551
ClinVar RCV Id: RCV000519030 RCV003766942
dbSNP Id: rs1387723456
gnomAD v3: 3-49122703-C-T
gnomAD v4: 3-49122703-C-T
COSMIC: COSM1213033
MyVariant Identifiers: chr3:g.49160136C>T (hg19) chr3:g.49122703C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122703C>T , CM000665.2:g.49122703C>T GRCh38
NC_000003.11:g.49160136C>T , CM000665.1:g.49160136C>T GRCh37
NC_000003.10:g.49135140C>T NCBI36
NG_008094.1:g.15464G>A
NG_054716.1:g.3236G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4573+1G>A MANE Select ENSP00000307156.4:n.4573+1G>A
ENST00000305544.8:c.4573+1G>A ENSP00000307156.4:n.4573+1G>A
ENST00000418109.5:c.4573+1G>A ENSP00000388325.1:n.4573+1G>A
ENST00000469665.1:n.883G>A
NM_002292.3:c.4573+1G>A NP_002283.3:n.4573+1G>A
XM_005265127.3:c.4573+1G>A XP_005265184.1:n.4573+1G>A
XM_005265127.4:c.4573+1G>A XP_005265184.1:n.4573+1G>A
NM_002292.4:c.4573+1G>A MANE Select NP_002283.3:n.4573+1G>A
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