Canonical Allele Identifier: CA3716040
Gene: PRRC2A HGNC NCBI
COSMIC:
COSM6350446 (not active)
MyVariant.info:
GRCh38 chr6:g.31632527G>C
GRCh37 chr6:g.31600304G>C
Revel Score:
ENST00000424184 0.061
ENST00000435052 0.061
ENST00000376007 0.061
ENST00000376033 (MANE Select) 0.061
ENST00000376010 0.061
gnomAD v2:
6:31600304 G / C
gnomAD v3:
6:31632527 G / C
gnomAD v4:
chr6-31632527-G-C
Joint Max Group AF 0.13998798 (AFR)
Genomes Max Group AF 0.13616355 (AFR)
Exomes Max Group AF 0.14265746 (AFR)
ClinVar RCV:
RCV001612117
RCV003984002
ClinVar Variation:
1229769
dbSNP:
2736158
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31632527G>C , CM000668.2:g.31632527G>C GRCh38
NC_000006.11:g.31600304G>C , CM000668.1:g.31600304G>C GRCh37
NC_000006.10:g.31708283G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.3854G>C MANE Select ENSP00000365201.2:p.Gly1285Ala
ENST00000376007.8:c.3854G>C ENSP00000365175.4:p.Gly1285Ala
ENST00000376033.2:c.3854G>C ENSP00000365201.2:p.Gly1285Ala
NM_004638.3:c.3854G>C NP_004629.3:p.Gly1285Ala
NM_080686.2:c.3854G>C NP_542417.2:p.Gly1285Ala
XM_011514890.1:c.3854G>C XP_011513192.1:p.Gly1285Ala
XM_017011274.1:c.3854G>C XP_016866763.1:p.Gly1285Ala
NM_004638.4:c.3854G>C MANE Select NP_004629.3:p.Gly1285Ala
NM_080686.3:c.3854G>C NP_542417.2:p.Gly1285Ala
Search 100 bp 5'
Search 100 bp 3'