Canonical Allele Identifier: CA10616343

Gene: LAMB2

Linked Data

• ClinVar Variation Id: 346007
• ClinVar RCV Id: RCV000291268 ; RCV000327689 ; RCV002523450
• dbSNP Id: rs886058677
• gnomAD v2: 3-49168297-T-C
• gnomAD v4: 3-49130864-T-C
• MyVariant Identifiers: chr3:g.49168297T>C (hg19) ; chr3:g.49130864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49130864T>C , CM000665.2:g.49130864T>C	GRCh38
NC_000003.11:g.49168297T>C , CM000665.1:g.49168297T>C	GRCh37
NC_000003.10:g.49143301T>C	NCBI36
NG_008094.1:g.7303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.916-4A>G MANE Select	ENSP00000307156.4:n.916-4A>G
ENST00000305544.8:c.916-4A>G	ENSP00000307156.4:n.916-4A>G
ENST00000418109.5:c.916-4A>G	ENSP00000388325.1:n.916-4A>G
NM_002292.3:c.916-4A>G	NP_002283.3:n.916-4A>G
XM_005265127.3:c.916-4A>G	XP_005265184.1:n.916-4A>G
XM_005265127.4:c.916-4A>G	XP_005265184.1:n.916-4A>G
NM_002292.4:c.916-4A>G MANE Select	NP_002283.3:n.916-4A>G