Canonical Allele Identifier: CA907822746
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1233186454
gnomAD v3: 3-49125510-G-C
gnomAD v4: 3-49125510-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125510G>C , CM000665.2:g.49125510G>C GRCh38
NC_000003.11:g.49162943G>C , CM000665.1:g.49162943G>C GRCh37
NC_000003.10:g.49137947G>C NCBI36
NG_008094.1:g.12657C>G
NG_054716.1:g.429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2489-26C>G MANE Select ENSP00000307156.4:n.2489-26C>G
ENST00000305544.8:c.2489-26C>G ENSP00000307156.4:n.2489-26C>G
ENST00000418109.5:c.2489-26C>G ENSP00000388325.1:n.2489-26C>G
ENST00000464891.5:n.212C>G
ENST00000477701.1:n.362-26C>G
ENST00000483057.1:n.63C>G
ENST00000486298.5:n.426-341C>G
NM_002292.3:c.2489-26C>G NP_002283.3:n.2489-26C>G
XM_005265127.3:c.2489-26C>G XP_005265184.1:n.2489-26C>G
XM_005265127.4:c.2489-26C>G XP_005265184.1:n.2489-26C>G
NM_002292.4:c.2489-26C>G MANE Select NP_002283.3:n.2489-26C>G