Canonical Allele Identifier: CA363331664
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622845-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622845C>T , CM000668.2:g.31622845C>T GRCh38
NC_000006.11:g.31590622C>T , CM000668.1:g.31590622C>T GRCh37
NC_000006.10:g.31698601C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.72C>T ENSP00000516471.1:p.Leu24=
ENST00000376033.3:c.56C>T MANE Select ENSP00000365201.2:p.Ser19Leu
ENST00000376007.8:c.56C>T ENSP00000365175.4:p.Ser19Leu
ENST00000376033.2:c.56C>T ENSP00000365201.2:p.Ser19Leu
ENST00000469577.5:n.136-1416C>T
NM_004638.3:c.56C>T NP_004629.3:p.Ser19Leu
NM_080686.2:c.56C>T NP_542417.2:p.Ser19Leu
XM_011514890.1:c.56C>T XP_011513192.1:p.Ser19Leu
XM_017011274.1:c.56C>T XP_016866763.1:p.Ser19Leu
NM_004638.4:c.56C>T MANE Select NP_004629.3:p.Ser19Leu
NM_080686.3:c.56C>T NP_542417.2:p.Ser19Leu