Canonical Allele Identifier: CA352697173
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505990
ClinVar RCV Id: RCV001999657
dbSNP Id: rs2107637483
gnomAD v4: 3-49123317-C-T
MyVariant Identifiers: chr3:g.49160750C>T (hg19) chr3:g.49123317C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123317C>T , CM000665.2:g.49123317C>T GRCh38
NC_000003.11:g.49160750C>T , CM000665.1:g.49160750C>T GRCh37
NC_000003.10:g.49135754C>T NCBI36
NG_008094.1:g.14850G>A
NG_054716.1:g.2622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4039G>A MANE Select ENSP00000307156.4:p.Ala1347Thr
ENST00000305544.8:c.4039G>A ENSP00000307156.4:p.Ala1347Thr
ENST00000418109.5:c.4039G>A ENSP00000388325.1:p.Ala1347Thr
ENST00000469665.1:n.269G>A
NM_002292.3:c.4039G>A NP_002283.3:p.Ala1347Thr
XM_005265127.3:c.4039G>A XP_005265184.1:p.Ala1347Thr
XM_005265127.4:c.4039G>A XP_005265184.1:p.Ala1347Thr
NM_002292.4:c.4039G>A MANE Select NP_002283.3:p.Ala1347Thr
Search 100 bp 5'
Search 100 bp 3'