Canonical Allele Identifier: CA2394280

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 705972
• ClinVar RCV Id: RCV001514569 ; RCV003948246
• dbSNP Id: rs752783113
• ExAC: 3:49162901 G / A
• gnomAD v2: 3-49162901-G-A
• gnomAD v3: 3-49125468-G-A
• gnomAD v4: 3-49125468-G-A
• MyVariant Identifiers: chr3:g.49162901G>A (hg19) ; chr3:g.49125468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125468G>A , CM000665.2:g.49125468G>A	GRCh38
NC_000003.11:g.49162901G>A , CM000665.1:g.49162901G>A	GRCh37
NC_000003.10:g.49137905G>A	NCBI36
NG_008094.1:g.12699C>T
NG_054716.1:g.471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2505C>T MANE Select	ENSP00000307156.4:p.His835=
ENST00000305544.8:c.2505C>T	ENSP00000307156.4:p.His835=
ENST00000418109.5:c.2505C>T	ENSP00000388325.1:p.His835=
ENST00000464891.5:n.254C>T
ENST00000477701.1:n.378C>T
ENST00000483057.1:n.105C>T
ENST00000486298.5:n.426-299C>T
NM_002292.3:c.2505C>T	NP_002283.3:p.His835=
XM_005265127.3:c.2505C>T	XP_005265184.1:p.His835=
XM_005265127.4:c.2505C>T	XP_005265184.1:p.His835=
NM_002292.4:c.2505C>T MANE Select	NP_002283.3:p.His835=