Canonical Allele Identifier: CA352715982

Gene: LAMB2

Linked Data

• dbSNP Id: rs146962414
• gnomAD v2: 3-49162469-T-C
• gnomAD v3: 3-49125036-T-C
• gnomAD v4: 3-49125036-T-C
• MyVariant Identifiers: chr3:g.49162469T>C (hg19) ; chr3:g.49125036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125036T>C , CM000665.2:g.49125036T>C	GRCh38
NC_000003.11:g.49162469T>C , CM000665.1:g.49162469T>C	GRCh37
NC_000003.10:g.49137473T>C	NCBI36
NG_008094.1:g.13131A>G
NG_054716.1:g.903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2854A>G MANE Select	ENSP00000307156.4:p.Ile952Val
ENST00000305544.8:c.2854A>G	ENSP00000307156.4:p.Ile952Val
ENST00000418109.5:c.2854A>G	ENSP00000388325.1:p.Ile952Val
ENST00000462930.5:n.261A>G
ENST00000464891.5:n.587A>G
ENST00000483057.1:n.454A>G
ENST00000486298.5:n.559A>G
ENST00000542580.1:n.169A>G
NM_002292.3:c.2854A>G	NP_002283.3:p.Ile952Val
XM_005265127.3:c.2854A>G	XP_005265184.1:p.Ile952Val
XM_005265127.4:c.2854A>G	XP_005265184.1:p.Ile952Val
NM_002292.4:c.2854A>G MANE Select	NP_002283.3:p.Ile952Val