Canonical Allele Identifier: CA608005
Gene: PRAMEF2 HGNC NCBI
HNRNPCL1 HGNC NCBI
ClinVar RCV:
RCV003886298
ClinVar Variation:
3025422
COSMIC:
COSM6337398
dbSNP:
140362402
gnomAD v2:
1:12919634 T / C
gnomAD v3:
1:12859779 T / C
gnomAD v4:
chr1-12859779-T-C
Joint Max Group AF 0.00725676 (SAS)
Genomes Max Group AF 0.02059042 (SAS)
Exomes Max Group AF 0.00635633 (SAS)
MyVariant.info:
GRCh38 chr1:g.12859779T>C
GRCh37 chr1:g.12919634T>C
Revel Score:
ENST00000240189 (MANE Select) 0.046
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.12859779T>C , CM000663.2:g.12859779T>C GRCh38
NC_000001.10:g.12919634T>C , CM000663.1:g.12919634T>C GRCh37
NC_000001.9:g.12842221T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240189.2:c.374T>C (PRAMEF2) MANE Select ENSP00000240189.2:p.Phe125Ser
ENST00000617044.1:c.-181-11309A>G (HNRNPCL1) ENSP00000479365.1:n.-181-11309A>G
NM_023014.1:c.374T>C (PRAMEF2) MANE Select NP_075390.1:p.Phe125Ser
Search 100 bp 5'
Search 100 bp 3'