Canonical Allele Identifier: CA2393554

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 345971
• ClinVar RCV Id: RCV000268661 ; RCV000370453 ; RCV001465357
• dbSNP Id: rs781092208
• ExAC: 3:49158770 A / G
• gnomAD v2: 3-49158770-A-G
• gnomAD v3: 3-49121337-A-G
• gnomAD v4: 3-49121337-A-G
• MyVariant Identifiers: chr3:g.49158770A>G (hg19) ; chr3:g.49121337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49121337A>G , CM000665.2:g.49121337A>G	GRCh38
NC_000003.11:g.49158770A>G , CM000665.1:g.49158770A>G	GRCh37
NC_000003.10:g.49133774A>G	NCBI36
NG_008094.1:g.16830T>C
NG_054716.1:g.4602T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.5286T>C MANE Select	ENSP00000307156.4:p.Asn1762=
ENST00000305544.8:c.5286T>C	ENSP00000307156.4:p.Asn1762=
ENST00000418109.5:c.5286T>C	ENSP00000388325.1:p.Asn1762=
ENST00000467506.5:n.466T>C
ENST00000484713.1:n.190T>C
ENST00000498377.1:n.941T>C
NM_002292.3:c.5286T>C	NP_002283.3:p.Asn1762=
XM_005265127.3:c.5286T>C	XP_005265184.1:p.Asn1762=
XM_005265127.4:c.5286T>C	XP_005265184.1:p.Asn1762=
NM_002292.4:c.5286T>C MANE Select	NP_002283.3:p.Asn1762=