Canonical Allele Identifier: CA2394221
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 707517
ClinVar RCV Id: RCV001503651
dbSNP Id: rs376904255
ExAC: 3:49162596 A / G
gnomAD v2: 3-49162596-A-G
gnomAD v3: 3-49125163-A-G
gnomAD v4: 3-49125163-A-G
MyVariant Identifiers: chr3:g.49162596A>G (hg19) chr3:g.49125163A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125163A>G , CM000665.2:g.49125163A>G GRCh38
NC_000003.11:g.49162596A>G , CM000665.1:g.49162596A>G GRCh37
NC_000003.10:g.49137600A>G NCBI36
NG_008094.1:g.13004T>C
NG_054716.1:g.776T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2727T>C MANE Select ENSP00000307156.4:p.Ile909=
ENST00000305544.8:c.2727T>C ENSP00000307156.4:p.Ile909=
ENST00000418109.5:c.2727T>C ENSP00000388325.1:p.Ile909=
ENST00000462930.5:n.134T>C
ENST00000464891.5:n.460T>C
ENST00000483057.1:n.327T>C
ENST00000486298.5:n.432T>C
ENST00000542580.1:n.42T>C
NM_002292.3:c.2727T>C NP_002283.3:p.Ile909=
XM_005265127.3:c.2727T>C XP_005265184.1:p.Ile909=
XM_005265127.4:c.2727T>C XP_005265184.1:p.Ile909=
NM_002292.4:c.2727T>C MANE Select NP_002283.3:p.Ile909=
Search 100 bp 5'
Search 100 bp 3'