Canonical Allele Identifier: CA2394163

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 345994
• ClinVar RCV Id: RCV000304855 ; RCV000341133 ; RCV000537395 ; RCV003950218
• dbSNP Id: rs145465720
• ExAC: 3:49162321 C / G
• gnomAD v2: 3-49162321-C-G
• gnomAD v3: 3-49124888-C-G
• gnomAD v4: 3-49124888-C-G
• MyVariant Identifiers: chr3:g.49162321C>G (hg19) ; chr3:g.49124888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49124888C>G , CM000665.2:g.49124888C>G	GRCh38
NC_000003.11:g.49162321C>G , CM000665.1:g.49162321C>G	GRCh37
NC_000003.10:g.49137325C>G	NCBI36
NG_008094.1:g.13279G>C
NG_054716.1:g.1051G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2922G>C MANE Select	ENSP00000307156.4:p.Gly974=
ENST00000305544.8:c.2922G>C	ENSP00000307156.4:p.Gly974=
ENST00000418109.5:c.2922G>C	ENSP00000388325.1:p.Gly974=
ENST00000462930.5:n.329G>C
ENST00000464891.5:n.655G>C
ENST00000483057.1:n.522G>C
ENST00000542580.1:n.237G>C
NM_002292.3:c.2922G>C	NP_002283.3:p.Gly974=
XM_005265127.3:c.2922G>C	XP_005265184.1:p.Gly974=
XM_005265127.4:c.2922G>C	XP_005265184.1:p.Gly974=
NM_002292.4:c.2922G>C MANE Select	NP_002283.3:p.Gly974=