Canonical Allele Identifier: CA124107

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 14530
• ClinVar RCV Id: RCV000015629 ; RCV001335017 ; RCV001849266 ; RCV002504793
• dbSNP Id: rs121912488
• ExAC: 3:49168562 G / A
• gnomAD v2: 3-49168562-G-A
• gnomAD v3: 3-49131129-G-A
• gnomAD v4: 3-49131129-G-A
• COSMIC: COSM1213032
• MyVariant Identifiers: chr3:g.49168562G>A (hg19) ; chr3:g.49131129G>A (hg38)
• PubMed: PMID:2206901 ; PMID:15367484

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131129G>A , CM000665.2:g.49131129G>A	GRCh38
NC_000003.11:g.49168562G>A , CM000665.1:g.49168562G>A	GRCh37
NC_000003.10:g.49143566G>A	NCBI36
NG_008094.1:g.7038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.736C>T MANE Select	ENSP00000307156.4:p.Arg246Trp
ENST00000305544.8:c.736C>T	ENSP00000307156.4:p.Arg246Trp
ENST00000418109.5:c.736C>T	ENSP00000388325.1:p.Arg246Trp
ENST00000494831.1:c.289C>T	ENSP00000444751.1:p.Arg97Trp
NM_002292.3:c.736C>T	NP_002283.3:p.Arg246Trp
XM_005265127.3:c.736C>T	XP_005265184.1:p.Arg246Trp
XM_005265127.4:c.736C>T	XP_005265184.1:p.Arg246Trp
NM_002292.4:c.736C>T MANE Select	NP_002283.3:p.Arg246Trp