Canonical Allele Identifier: CA2394255
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 586112
dbSNP Id: rs527639885
gnomAD v2: 3-49162737-G-A
gnomAD v3: 3-49125304-G-A
gnomAD v4: 3-49125304-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125304G>A , CM000665.2:g.49125304G>A GRCh38
NC_000003.11:g.49162737G>A , CM000665.1:g.49162737G>A GRCh37
NC_000003.10:g.49137741G>A NCBI36
NG_008094.1:g.12863C>T
NG_054716.1:g.635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2669C>T MANE Select ENSP00000307156.4:p.Thr890Ile
ENST00000305544.8:c.2669C>T ENSP00000307156.4:p.Thr890Ile
ENST00000418109.5:c.2669C>T ENSP00000388325.1:p.Thr890Ile
ENST00000462930.5:n.76C>T
ENST00000464891.5:n.418C>T
ENST00000477701.1:n.542C>T
ENST00000483057.1:n.269C>T
ENST00000486298.5:n.426-135C>T
NM_002292.3:c.2669C>T NP_002283.3:p.Thr890Ile
XM_005265127.3:c.2669C>T XP_005265184.1:p.Thr890Ile
XM_005265127.4:c.2669C>T XP_005265184.1:p.Thr890Ile
NM_002292.4:c.2669C>T MANE Select NP_002283.3:p.Thr890Ile