Canonical Allele Identifier: CA363331742

Gene: PRRC2A

Linked Data

• dbSNP Id: rs1353014176
• gnomAD v2: 6-31590629-C-G
• gnomAD v4: 6-31622852-C-G
• MyVariant Identifiers: chr6:g.31590629C>G (hg19) ; chr6:g.31622852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622852C>G , CM000668.2:g.31622852C>G	GRCh38
NC_000006.11:g.31590629C>G , CM000668.1:g.31590629C>G	GRCh37
NC_000006.10:g.31698608C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.79C>G	ENSP00000516471.1:p.Pro27Ala
ENST00000376033.3:c.63C>G MANE Select	ENSP00000365201.2:p.Asn21Lys
ENST00000376007.8:c.63C>G	ENSP00000365175.4:p.Asn21Lys
ENST00000376033.2:c.63C>G	ENSP00000365201.2:p.Asn21Lys
ENST00000469577.5:n.136-1409C>G
NM_004638.3:c.63C>G	NP_004629.3:p.Asn21Lys
NM_080686.2:c.63C>G	NP_542417.2:p.Asn21Lys
XM_011514890.1:c.63C>G	XP_011513192.1:p.Asn21Lys
XM_017011274.1:c.63C>G	XP_016866763.1:p.Asn21Lys
NM_004638.4:c.63C>G MANE Select	NP_004629.3:p.Asn21Lys
NM_080686.3:c.63C>G	NP_542417.2:p.Asn21Lys