Canonical Allele Identifier: CA2394732
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402666
ClinVar RCV Id: RCV001906540
dbSNP Id: rs187004232
ExAC: 3:49168209 G / T
gnomAD v2: 3-49168209-G-T
gnomAD v3: 3-49130776-G-T
gnomAD v4: 3-49130776-G-T
MyVariant Identifiers: chr3:g.49168209G>T (hg19) chr3:g.49130776G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130776G>T , CM000665.2:g.49130776G>T GRCh38
NC_000003.11:g.49168209G>T , CM000665.1:g.49168209G>T GRCh37
NC_000003.10:g.49143213G>T NCBI36
NG_008094.1:g.7391C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1000C>A MANE Select ENSP00000307156.4:p.Arg334Ser
ENST00000305544.8:c.1000C>A ENSP00000307156.4:p.Arg334Ser
ENST00000418109.5:c.1000C>A ENSP00000388325.1:p.Arg334Ser
NM_002292.3:c.1000C>A NP_002283.3:p.Arg334Ser
XM_005265127.3:c.1000C>A XP_005265184.1:p.Arg334Ser
XM_005265127.4:c.1000C>A XP_005265184.1:p.Arg334Ser
NM_002292.4:c.1000C>A MANE Select NP_002283.3:p.Arg334Ser
Search 100 bp 5'
Search 100 bp 3'