Canonical Allele Identifier: CA907821855
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1476762807
gnomAD v3: 3-49124954-T-G
gnomAD v4: 3-49124954-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49124954T>G , CM000665.2:g.49124954T>G GRCh38
NC_000003.11:g.49162387T>G , CM000665.1:g.49162387T>G GRCh37
NC_000003.10:g.49137391T>G NCBI36
NG_008094.1:g.13213A>C
NG_054716.1:g.985A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2885-29A>C MANE Select ENSP00000307156.4:n.2885-29A>C
ENST00000305544.8:c.2885-29A>C ENSP00000307156.4:n.2885-29A>C
ENST00000418109.5:c.2885-29A>C ENSP00000388325.1:n.2885-29A>C
ENST00000462930.5:n.292-29A>C
ENST00000464891.5:n.618-29A>C
ENST00000483057.1:n.485-29A>C
ENST00000542580.1:n.200-29A>C
NM_002292.3:c.2885-29A>C NP_002283.3:n.2885-29A>C
XM_005265127.3:c.2885-29A>C XP_005265184.1:n.2885-29A>C
XM_005265127.4:c.2885-29A>C XP_005265184.1:n.2885-29A>C
NM_002292.4:c.2885-29A>C MANE Select NP_002283.3:n.2885-29A>C