Canonical Allele Identifier: CA2394793

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 346008
• ClinVar RCV Id: RCV000287600 ; RCV000382224 ; RCV000529365 ; RCV001795964 ; RCV002294303
• dbSNP Id: rs151251039
• ExAC: 3:49168482 A / G
• gnomAD v2: 3-49168482-A-G
• gnomAD v3: 3-49131049-A-G
• gnomAD v4: 3-49131049-A-G
• MyVariant Identifiers: chr3:g.49168482A>G (hg19) ; chr3:g.49131049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49131049A>G , CM000665.2:g.49131049A>G	GRCh38
NC_000003.11:g.49168482A>G , CM000665.1:g.49168482A>G	GRCh37
NC_000003.10:g.49143486A>G	NCBI36
NG_008094.1:g.7118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.816T>C MANE Select	ENSP00000307156.4:p.Tyr272=
ENST00000305544.8:c.816T>C	ENSP00000307156.4:p.Tyr272=
ENST00000418109.5:c.816T>C	ENSP00000388325.1:p.Tyr272=
ENST00000494831.1:c.369T>C	ENSP00000444751.1:p.Tyr123=
NM_002292.3:c.816T>C	NP_002283.3:p.Tyr272=
XM_005265127.3:c.816T>C	XP_005265184.1:p.Tyr272=
XM_005265127.4:c.816T>C	XP_005265184.1:p.Tyr272=
NM_002292.4:c.816T>C MANE Select	NP_002283.3:p.Tyr272=