Canonical Allele Identifier: CA363330991
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622800-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622800G>A , CM000668.2:g.31622800G>A GRCh38
NC_000006.11:g.31590577G>A , CM000668.1:g.31590577G>A GRCh37
NC_000006.10:g.31698556G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.27G>A ENSP00000516471.1:p.Ser9=
ENST00000376033.3:c.11G>A MANE Select ENSP00000365201.2:p.Arg4His
ENST00000376007.8:c.11G>A ENSP00000365175.4:p.Arg4His
ENST00000376033.2:c.11G>A ENSP00000365201.2:p.Arg4His
ENST00000469577.5:n.136-1461G>A
NM_004638.3:c.11G>A NP_004629.3:p.Arg4His
NM_080686.2:c.11G>A NP_542417.2:p.Arg4His
XM_011514890.1:c.11G>A XP_011513192.1:p.Arg4His
XM_017011274.1:c.11G>A XP_016866763.1:p.Arg4His
NM_004638.4:c.11G>A MANE Select NP_004629.3:p.Arg4His
NM_080686.3:c.11G>A NP_542417.2:p.Arg4His