Canonical Allele Identifier: CA352700432

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 429194
• ClinVar RCV Id: RCV003766768
• dbSNP Id: rs1131690793
• gnomAD v2: 3-49161065-C-G
• gnomAD v3: 3-49123632-C-G
• gnomAD v4: 3-49123632-C-G
• MyVariant Identifiers: chr3:g.49161065C>G (hg19) ; chr3:g.49123632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49123632C>G , CM000665.2:g.49123632C>G	GRCh38
NC_000003.11:g.49161065C>G , CM000665.1:g.49161065C>G	GRCh37
NC_000003.10:g.49136069C>G	NCBI36
NG_008094.1:g.14535G>C
NG_054716.1:g.2307G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.3798-1G>C MANE Select	ENSP00000307156.4:n.3798-1G>C
ENST00000305544.8:c.3798-1G>C	ENSP00000307156.4:n.3798-1G>C
ENST00000418109.5:c.3798-1G>C	ENSP00000388325.1:n.3798-1G>C
ENST00000469665.1:n.28-1G>C
ENST00000477225.1:n.229-1G>C
NM_002292.3:c.3798-1G>C	NP_002283.3:n.3798-1G>C
XM_005265127.3:c.3798-1G>C	XP_005265184.1:n.3798-1G>C
XM_005265127.4:c.3798-1G>C	XP_005265184.1:n.3798-1G>C
NM_002292.4:c.3798-1G>C MANE Select	NP_002283.3:n.3798-1G>C