Canonical Allele Identifier: CA10616343
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 346007
dbSNP Id: rs886058677
gnomAD v2: 3-49168297-T-C
gnomAD v4: 3-49130864-T-C

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