Canonical Allele Identifier: CA2665697302
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49124997-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49124997T>C , CM000665.2:g.49124997T>C GRCh38
NC_000003.11:g.49162430T>C , CM000665.1:g.49162430T>C GRCh37
NC_000003.10:g.49137434T>C NCBI36
NG_008094.1:g.13170A>G
NG_054716.1:g.942A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2884+9A>G MANE Select ENSP00000307156.4:n.2884+9A>G
ENST00000305544.8:c.2884+9A>G ENSP00000307156.4:n.2884+9A>G
ENST00000418109.5:c.2884+9A>G ENSP00000388325.1:n.2884+9A>G
ENST00000462930.5:n.291+9A>G
ENST00000464891.5:n.617+9A>G
ENST00000483057.1:n.484+9A>G
ENST00000542580.1:n.199+9A>G
NM_002292.3:c.2884+9A>G NP_002283.3:n.2884+9A>G
XM_005265127.3:c.2884+9A>G XP_005265184.1:n.2884+9A>G
XM_005265127.4:c.2884+9A>G XP_005265184.1:n.2884+9A>G
NM_002292.4:c.2884+9A>G MANE Select NP_002283.3:n.2884+9A>G