Canonical Allele Identifier: CA2394742

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 1489609
• ClinVar RCV Id: RCV002001541
• dbSNP Id: rs144771072
• ExAC: 3:49168259 C / T
• gnomAD v2: 3-49168259-C-T
• gnomAD v3: 3-49130826-C-T
• gnomAD v4: 3-49130826-C-T
• COSMIC: COSM4118453
• MyVariant Identifiers: chr3:g.49168259C>T (hg19) ; chr3:g.49130826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130826C>T , CM000665.2:g.49130826C>T	GRCh38
NC_000003.11:g.49168259C>T , CM000665.1:g.49168259C>T	GRCh37
NC_000003.10:g.49143263C>T	NCBI36
NG_008094.1:g.7341G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000305544.9:c.950G>A MANE Select	ENSP00000307156.4:p.Arg317His
ENST00000305544.8:c.950G>A	ENSP00000307156.4:p.Arg317His
ENST00000418109.5:c.950G>A	ENSP00000388325.1:p.Arg317His
NM_002292.3:c.950G>A	NP_002283.3:p.Arg317His
XM_005265127.3:c.950G>A	XP_005265184.1:p.Arg317His
XM_005265127.4:c.950G>A	XP_005265184.1:p.Arg317His
NM_002292.4:c.950G>A MANE Select	NP_002283.3:p.Arg317His