Canonical Allele Identifier: CA363331040

Gene: PRRC2A

Linked Data

• dbSNP Id: rs1203205112
• gnomAD v2: 6-31590586-C-G
• gnomAD v4: 6-31622809-C-G
• MyVariant Identifiers: chr6:g.31590586C>G (hg19) ; chr6:g.31622809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31622809C>G , CM000668.2:g.31622809C>G	GRCh38
NC_000006.11:g.31590586C>G , CM000668.1:g.31590586C>G	GRCh37
NC_000006.10:g.31698565C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706625.1:c.36C>G	ENSP00000516471.1:p.Ala12=
ENST00000376033.3:c.20C>G MANE Select	ENSP00000365201.2:p.Pro7Arg
ENST00000376007.8:c.20C>G	ENSP00000365175.4:p.Pro7Arg
ENST00000376033.2:c.20C>G	ENSP00000365201.2:p.Pro7Arg
ENST00000469577.5:n.136-1452C>G
NM_004638.3:c.20C>G	NP_004629.3:p.Pro7Arg
NM_080686.2:c.20C>G	NP_542417.2:p.Pro7Arg
XM_011514890.1:c.20C>G	XP_011513192.1:p.Pro7Arg
XM_017011274.1:c.20C>G	XP_016866763.1:p.Pro7Arg
NM_004638.4:c.20C>G MANE Select	NP_004629.3:p.Pro7Arg
NM_080686.3:c.20C>G	NP_542417.2:p.Pro7Arg