Canonical Allele Identifier: CA2393675

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 258613
• ClinVar RCV Id: RCV000243237 ; RCV000292740 ; RCV000398762 ; RCV000876599
• dbSNP Id: rs148648480
• ExAC: 3:49159422 C / T
• gnomAD v2: 3-49159422-C-T
• gnomAD v3: 3-49121989-C-T
• gnomAD v4: 3-49121989-C-T
• MyVariant Identifiers: chr3:g.49159422C>T (hg19) ; chr3:g.49121989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49121989C>T , CM000665.2:g.49121989C>T	GRCh38
NC_000003.11:g.49159422C>T , CM000665.1:g.49159422C>T	GRCh37
NC_000003.10:g.49134426C>T	NCBI36
NG_008094.1:g.16178G>A
NG_054716.1:g.3950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4878G>A MANE Select	ENSP00000307156.4:p.Arg1626=
ENST00000305544.8:c.4878G>A	ENSP00000307156.4:p.Arg1626=
ENST00000418109.5:c.4878G>A	ENSP00000388325.1:p.Arg1626=
ENST00000498377.1:n.533G>A
NM_002292.3:c.4878G>A	NP_002283.3:p.Arg1626=
XM_005265127.3:c.4878G>A	XP_005265184.1:p.Arg1626=
XM_005265127.4:c.4878G>A	XP_005265184.1:p.Arg1626=
NM_002292.4:c.4878G>A MANE Select	NP_002283.3:p.Arg1626=