Canonical Allele Identifier: CA907827460
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1414502543
gnomAD v4: 3-49130703-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49130703A>G , CM000665.2:g.49130703A>G GRCh38
NC_000003.11:g.49168136A>G , CM000665.1:g.49168136A>G GRCh37
NC_000003.10:g.49143140A>G NCBI36
NG_008094.1:g.7464T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.1036+37T>C MANE Select ENSP00000307156.4:n.1036+37T>C
ENST00000305544.8:c.1036+37T>C ENSP00000307156.4:n.1036+37T>C
ENST00000418109.5:c.1036+37T>C ENSP00000388325.1:n.1036+37T>C
NM_002292.3:c.1036+37T>C NP_002283.3:n.1036+37T>C
XM_005265127.3:c.1036+37T>C XP_005265184.1:n.1036+37T>C
XM_005265127.4:c.1036+37T>C XP_005265184.1:n.1036+37T>C
NM_002292.4:c.1036+37T>C MANE Select NP_002283.3:n.1036+37T>C