Canonical Allele Identifier: CA9067535
Gene: LMNB2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.2433996G>A
GRCh37 chr19:g.2433994G>A
Revel Score:
ENST00000325327 (MANE Select) 0.348
gnomAD v2:
19:2433994 G / A
gnomAD v3:
19:2433996 G / A
gnomAD v4:
chr19-2433996-G-A
Joint Max Group AF 0.00001964 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.00001831 (NFE)
ClinVar RCV:
RCV000652861
RCV004025889
ClinVar Variation:
542438
dbSNP:
780728738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2433996G>A , CM000681.2:g.2433996G>A GRCh38
NC_000019.9:g.2433994G>A , CM000681.1:g.2433994G>A GRCh37
NC_000019.8:g.2384994G>A NCBI36
NG_008355.1:g.27965C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325327.4:c.1312C>T MANE Select ENSP00000327054.3:p.Arg438Trp
ENST00000325327.3:c.1312C>T ENSP00000327054.3:p.Arg438Trp
ENST00000490554.5:n.503C>T
NM_032737.3:c.1312C>T NP_116126.3:p.Arg438Trp
XM_011528378.1:c.1312C>T XP_011526680.1:p.Arg438Trp
XM_011528379.1:c.964C>T XP_011526681.1:p.Arg322Trp
NM_032737.4:c.1312C>T MANE Select NP_116126.3:p.Arg438Trp
Search 100 bp 5'
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