Canonical Allele Identifier: CA2393821
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 568997
ClinVar RCV Id: RCV000689520
dbSNP Id: rs141317511
ExAC: 3:49160436 C / G
gnomAD v2: 3-49160436-C-G
gnomAD v3: 3-49123003-C-G
gnomAD v4: 3-49123003-C-G
MyVariant Identifiers: chr3:g.49160436C>G (hg19) chr3:g.49123003C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123003C>G , CM000665.2:g.49123003C>G GRCh38
NC_000003.11:g.49160436C>G , CM000665.1:g.49160436C>G GRCh37
NC_000003.10:g.49135440C>G NCBI36
NG_008094.1:g.15164G>C
NG_054716.1:g.2936G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4274G>C MANE Select ENSP00000307156.4:p.Gly1425Ala
ENST00000305544.8:c.4274G>C ENSP00000307156.4:p.Gly1425Ala
ENST00000418109.5:c.4274G>C ENSP00000388325.1:p.Gly1425Ala
ENST00000469665.1:n.583G>C
NM_002292.3:c.4274G>C NP_002283.3:p.Gly1425Ala
XM_005265127.3:c.4274G>C XP_005265184.1:p.Gly1425Ala
XM_005265127.4:c.4274G>C XP_005265184.1:p.Gly1425Ala
NM_002292.4:c.4274G>C MANE Select NP_002283.3:p.Gly1425Ala
Search 100 bp 5'
Search 100 bp 3'