Canonical Allele Identifier: CA3796917
Gene: LRFN2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.40432255C>T
GRCh37 chr6:g.40399994C>T
Revel Score:
ENST00000338305 (MANE Select) 0.392
gnomAD v2:
6:40399994 C / T
gnomAD v3:
6:40432255 C / T
gnomAD v4:
chr6-40432255-C-T
Joint Max Group AF 0.00000953 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
ClinVar Allele:
2219878
ClinVar RCV:
RCV004095511
ClinVar Variation:
2230424
dbSNP:
376487545
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.40432255C>T , CM000668.2:g.40432255C>T GRCh38
NC_000006.11:g.40399994C>T , CM000668.1:g.40399994C>T GRCh37
NC_000006.10:g.40507972C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000700335.1:c.859G>A ENSP00000514953.1:p.Glu287Lys
ENST00000338305.7:c.859G>A MANE Select ENSP00000345985.6:p.Glu287Lys
ENST00000338305.6:c.859G>A ENSP00000345985.6:p.Glu287Lys
NM_020737.2:c.859G>A NP_065788.1:p.Glu287Lys
XM_011514759.1:c.985G>A XP_011513061.1:p.Glu329Lys
XM_011514760.1:c.985G>A XP_011513062.1:p.Glu329Lys
XM_011514761.1:c.859G>A XP_011513063.1:p.Glu287Lys
XM_011514762.1:c.859G>A XP_011513064.1:p.Glu287Lys
XM_011514763.1:c.859G>A XP_011513065.1:p.Glu287Lys
XM_011514761.2:c.859G>A XP_011513063.1:p.Glu287Lys
XM_011514762.2:c.859G>A XP_011513064.1:p.Glu287Lys
XM_017011110.1:c.859G>A XP_016866599.1:p.Glu287Lys
XM_017011111.1:c.859G>A XP_016866600.1:p.Glu287Lys
NM_020737.3:c.859G>A MANE Select NP_065788.1:p.Glu287Lys
Search 100 bp 5'
Search 100 bp 3'