Canonical Allele Identifier: CA3716487
Gene: PRRC2A HGNC NCBI
COSMIC:
COSM4985121 (not active)
MyVariant.info:
GRCh38 chr6:g.31635412G>A
GRCh37 chr6:g.31603189G>A
Revel Score:
ENST00000424184 0.073
ENST00000435052 0.073
ENST00000376007 0.073
ENST00000376033 (MANE Select) 0.073
ENST00000376010 0.073
gnomAD v2:
6:31603189 G / A
gnomAD v3:
6:31635412 G / A
gnomAD v4:
chr6-31635412-G-A
Joint Max Group AF 0.08700959 (AFR)
Genomes Max Group AF 0.08660071 (AFR)
Exomes Max Group AF 0.08588297 (AFR)
ClinVar RCV:
RCV003964472
ClinVar Variation:
3057120
dbSNP:
11538264
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635412G>A , CM000668.2:g.31635412G>A GRCh38
NC_000006.11:g.31603189G>A , CM000668.1:g.31603189G>A GRCh37
NC_000006.10:g.31711168G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5320G>A MANE Select ENSP00000365201.2:p.Val1774Met
ENST00000376007.8:c.5320G>A ENSP00000365175.4:p.Val1774Met
ENST00000376033.2:c.5320G>A ENSP00000365201.2:p.Val1774Met
ENST00000469501.1:n.50G>A
ENST00000487089.1:n.53G>A
ENST00000487839.1:n.37G>A
NM_004638.3:c.5320G>A NP_004629.3:p.Val1774Met
NM_080686.2:c.5320G>A NP_542417.2:p.Val1774Met
XM_011514890.1:c.5320G>A XP_011513192.1:p.Val1774Met
XM_017011274.1:c.5320G>A XP_016866763.1:p.Val1774Met
NM_004638.4:c.5320G>A MANE Select NP_004629.3:p.Val1774Met
NM_080686.3:c.5320G>A NP_542417.2:p.Val1774Met
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