Canonical Allele Identifier: CA3716461

Gene: PRRC2A

Linked Data

• dbSNP Id: rs142470358
• ExAC: 6:31603024 C / G
• gnomAD v2: 6-31603024-C-G
• gnomAD v3: 6-31635247-C-G
• gnomAD v4: 6-31635247-C-G
• MyVariant Identifiers: chr6:g.31603024C>G (hg19) ; chr6:g.31635247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31635247C>G , CM000668.2:g.31635247C>G	GRCh38
NC_000006.11:g.31603024C>G , CM000668.1:g.31603024C>G	GRCh37
NC_000006.10:g.31711003C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376033.3:c.5276C>G MANE Select	ENSP00000365201.2:p.Pro1759Arg
ENST00000376007.8:c.5276C>G	ENSP00000365175.4:p.Pro1759Arg
ENST00000376033.2:c.5276C>G	ENSP00000365201.2:p.Pro1759Arg
ENST00000469501.1:n.6C>G
ENST00000484787.1:n.687C>G
NM_004638.3:c.5276C>G	NP_004629.3:p.Pro1759Arg
NM_080686.2:c.5276C>G	NP_542417.2:p.Pro1759Arg
XM_011514890.1:c.5276C>G	XP_011513192.1:p.Pro1759Arg
XM_017011274.1:c.5276C>G	XP_016866763.1:p.Pro1759Arg
NM_004638.4:c.5276C>G MANE Select	NP_004629.3:p.Pro1759Arg
NM_080686.3:c.5276C>G	NP_542417.2:p.Pro1759Arg