Canonical Allele Identifier: CA123980
Gene: LMNB2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.2435152C>T
GRCh37 chr19:g.2435150C>T
Revel Score:
ENST00000325327 (MANE Select) 0.306
gnomAD v2:
19:2435150 C / T
gnomAD v3:
19:2435152 C / T
gnomAD v4:
chr19-2435152-C-T
Joint Max Group AF 0.01472441 (NFE)
Genomes Max Group AF 0.01321443 (NFE)
Exomes Max Group AF 0.01477754 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2435152C>T , CM000681.2:g.2435152C>T GRCh38
NC_000019.9:g.2435150C>T , CM000681.1:g.2435150C>T GRCh37
NC_000019.8:g.2386150C>T NCBI36
NG_008355.1:g.26809G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325327.4:c.704G>A MANE Select ENSP00000327054.3:p.Arg235Gln
ENST00000325327.3:c.704G>A ENSP00000327054.3:p.Arg235Gln
ENST00000527409.1:n.340G>A
ENST00000534495.1:n.342G>A
NM_032737.3:c.704G>A NP_116126.3:p.Arg235Gln
XM_011528378.1:c.704G>A XP_011526680.1:p.Arg235Gln
XM_011528379.1:c.356G>A XP_011526681.1:p.Arg119Gln
NM_032737.4:c.704G>A MANE Select NP_116126.3:p.Arg235Gln
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