Canonical Allele Identifier: CA9067505
Gene: LMNB2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.2433905G>C
GRCh37 chr19:g.2433903G>C
Revel Score:
ENST00000325327 (MANE Select) 0.270
gnomAD v2:
19:2433903 G / C
gnomAD v3:
19:2433905 G / C
gnomAD v4:
chr19-2433905-G-C
Joint Max Group AF 0.00002979 (EAS)
Exomes Max Group AF 0.00002004 (EAS)
ClinVar RCV:
RCV000541840
ClinVar Variation:
475775
dbSNP:
766297775
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2433905G>C , CM000681.2:g.2433905G>C GRCh38
NC_000019.9:g.2433903G>C , CM000681.1:g.2433903G>C GRCh37
NC_000019.8:g.2384903G>C NCBI36
NG_008355.1:g.28056C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000325327.4:c.1403C>G MANE Select ENSP00000327054.3:p.Ala468Gly
ENST00000325327.3:c.1403C>G ENSP00000327054.3:p.Ala468Gly
ENST00000490554.5:n.594C>G
NM_032737.3:c.1403C>G NP_116126.3:p.Ala468Gly
XM_011528378.1:c.1403C>G XP_011526680.1:p.Ala468Gly
XM_011528379.1:c.1055C>G XP_011526681.1:p.Ala352Gly
NM_032737.4:c.1403C>G MANE Select NP_116126.3:p.Ala468Gly
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