Canonical Allele Identifier: CA2393880
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs200921264
gnomAD v3: 3-49123295-A-G
gnomAD v4: 3-49123295-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123295A>G , CM000665.2:g.49123295A>G GRCh38
NC_000003.11:g.49160728A>G , CM000665.1:g.49160728A>G GRCh37
NC_000003.10:g.49135732A>G NCBI36
NG_008094.1:g.14872T>C
NG_054716.1:g.2644T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4061T>C MANE Select ENSP00000307156.4:p.Val1354Ala
ENST00000305544.8:c.4061T>C ENSP00000307156.4:p.Val1354Ala
ENST00000418109.5:c.4061T>C ENSP00000388325.1:p.Val1354Ala
ENST00000469665.1:n.291T>C
NM_002292.3:c.4061T>C NP_002283.3:p.Val1354Ala
XM_005265127.3:c.4061T>C XP_005265184.1:p.Val1354Ala
XM_005265127.4:c.4061T>C XP_005265184.1:p.Val1354Ala
NM_002292.4:c.4061T>C MANE Select NP_002283.3:p.Val1354Ala