Canonical Allele Identifier: CA2393624

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 345973
• ClinVar RCV Id: RCV000272339 ; RCV000321246 ; RCV000551379 ; RCV001753812 ; RCV003401366 ; RCV002520156
• dbSNP Id: rs141473691
• ExAC: 3:49159178 G / A
• gnomAD v2: 3-49159178-G-A
• gnomAD v3: 3-49121745-G-A
• gnomAD v4: 3-49121745-G-A
• COSMIC: COSM1328157
• MyVariant Identifiers: chr3:g.49159178G>A (hg19) ; chr3:g.49121745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49121745G>A , CM000665.2:g.49121745G>A	GRCh38
NC_000003.11:g.49159178G>A , CM000665.1:g.49159178G>A	GRCh37
NC_000003.10:g.49134182G>A	NCBI36
NG_008094.1:g.16422C>T
NG_054716.1:g.4194C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.5039C>T MANE Select	ENSP00000307156.4:p.Ala1680Val
ENST00000305544.8:c.5039C>T	ENSP00000307156.4:p.Ala1680Val
ENST00000418109.5:c.5039C>T	ENSP00000388325.1:p.Ala1680Val
ENST00000467506.5:n.149C>T
ENST00000498377.1:n.694C>T
NM_002292.3:c.5039C>T	NP_002283.3:p.Ala1680Val
XM_005265127.3:c.5039C>T	XP_005265184.1:p.Ala1680Val
XM_005265127.4:c.5039C>T	XP_005265184.1:p.Ala1680Val
NM_002292.4:c.5039C>T MANE Select	NP_002283.3:p.Ala1680Val