Canonical Allele Identifier: CA3715441
Gene: PRRC2A HGNC NCBI
ClinVar RCV:
RCV003982229
ClinVar Variation:
3060200
dbSNP:
1046080
gnomAD v2:
6:31595882 C / A
gnomAD v3:
6:31628105 C / A
gnomAD v4:
chr6-31628105-C-A
Joint Max Group AF 0.97370619 (EAS)
Genomes Max Group AF 0.9507905 (EAS)
Exomes Max Group AF 0.97427439 (EAS)
MyVariant.info:
GRCh38 chr6:g.31628105C>A
GRCh37 chr6:g.31595882C>A
Revel Score:
ENST00000424184 0.144
ENST00000435052 0.144
ENST00000376007 0.144
ENST00000376033 (MANE Select) 0.144
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31628105C>A , CM000668.2:g.31628105C>A GRCh38
NC_000006.11:g.31595882C>A , CM000668.1:g.31595882C>A GRCh37
NC_000006.10:g.31703861C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.1631C>A MANE Select ENSP00000365201.2:p.Thr544Lys
ENST00000376007.8:c.1631C>A ENSP00000365175.4:p.Thr544Lys
ENST00000376033.2:c.1631C>A ENSP00000365201.2:p.Thr544Lys
NM_004638.3:c.1631C>A NP_004629.3:p.Thr544Lys
NM_080686.2:c.1631C>A NP_542417.2:p.Thr544Lys
XM_011514890.1:c.1631C>A XP_011513192.1:p.Thr544Lys
XM_017011274.1:c.1631C>A XP_016866763.1:p.Thr544Lys
NM_004638.4:c.1631C>A MANE Select NP_004629.3:p.Thr544Lys
NM_080686.3:c.1631C>A NP_542417.2:p.Thr544Lys
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