Canonical Allele Identifier: CA363331650
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622844-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622844T>C , CM000668.2:g.31622844T>C GRCh38
NC_000006.11:g.31590621T>C , CM000668.1:g.31590621T>C GRCh37
NC_000006.10:g.31698600T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.71T>C ENSP00000516471.1:p.Leu24Pro
ENST00000376033.3:c.55T>C MANE Select ENSP00000365201.2:p.Ser19Pro
ENST00000376007.8:c.55T>C ENSP00000365175.4:p.Ser19Pro
ENST00000376033.2:c.55T>C ENSP00000365201.2:p.Ser19Pro
ENST00000469577.5:n.136-1417T>C
NM_004638.3:c.55T>C NP_004629.3:p.Ser19Pro
NM_080686.2:c.55T>C NP_542417.2:p.Ser19Pro
XM_011514890.1:c.55T>C XP_011513192.1:p.Ser19Pro
XM_017011274.1:c.55T>C XP_016866763.1:p.Ser19Pro
NM_004638.4:c.55T>C MANE Select NP_004629.3:p.Ser19Pro
NM_080686.3:c.55T>C NP_542417.2:p.Ser19Pro