Canonical Allele Identifier: CA2665698279
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49125503-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125503T>A , CM000665.2:g.49125503T>A GRCh38
NC_000003.11:g.49162936T>A , CM000665.1:g.49162936T>A GRCh37
NC_000003.10:g.49137940T>A NCBI36
NG_008094.1:g.12664A>T
NG_054716.1:g.436A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2489-19A>T MANE Select ENSP00000307156.4:n.2489-19A>T
ENST00000305544.8:c.2489-19A>T ENSP00000307156.4:n.2489-19A>T
ENST00000418109.5:c.2489-19A>T ENSP00000388325.1:n.2489-19A>T
ENST00000464891.5:n.219A>T
ENST00000477701.1:n.362-19A>T
ENST00000483057.1:n.70A>T
ENST00000486298.5:n.426-334A>T
NM_002292.3:c.2489-19A>T NP_002283.3:n.2489-19A>T
XM_005265127.3:c.2489-19A>T XP_005265184.1:n.2489-19A>T
XM_005265127.4:c.2489-19A>T XP_005265184.1:n.2489-19A>T
NM_002292.4:c.2489-19A>T MANE Select NP_002283.3:n.2489-19A>T