Canonical Allele Identifier: CA3716445
Gene: PRRC2A HGNC NCBI
COSMIC:
COSM3761888 (not active)
MyVariant.info:
GRCh38 chr6:g.31635190G>A
GRCh37 chr6:g.31602967G>A
Revel Score:
ENST00000424184 0.155
ENST00000435052 0.155
ENST00000376007 0.155
ENST00000376033 (MANE Select) 0.155
ENST00000376010 0.155
gnomAD v2:
6:31602967 G / A
gnomAD v3:
6:31635190 G / A
gnomAD v4:
chr6-31635190-G-A
Joint Max Group AF 0.50333145 (AFR)
Genomes Max Group AF 0.49693962 (AFR)
Exomes Max Group AF 0.50731388 (AFR)
ClinVar RCV:
RCV003982291
ClinVar Variation:
3060262
dbSNP:
1046089
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635190G>A , CM000668.2:g.31635190G>A GRCh38
NC_000006.11:g.31602967G>A , CM000668.1:g.31602967G>A GRCh37
NC_000006.10:g.31710946G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5219G>A MANE Select ENSP00000365201.2:p.Arg1740His
ENST00000376007.8:c.5219G>A ENSP00000365175.4:p.Arg1740His
ENST00000376033.2:c.5219G>A ENSP00000365201.2:p.Arg1740His
ENST00000484787.1:n.630G>A
NM_004638.3:c.5219G>A NP_004629.3:p.Arg1740His
NM_080686.2:c.5219G>A NP_542417.2:p.Arg1740His
XM_011514890.1:c.5219G>A XP_011513192.1:p.Arg1740His
XM_017011274.1:c.5219G>A XP_016866763.1:p.Arg1740His
NM_004638.4:c.5219G>A MANE Select NP_004629.3:p.Arg1740His
NM_080686.3:c.5219G>A NP_542417.2:p.Arg1740His
Search 100 bp 5'
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