Canonical Allele Identifier: CA363364710
Gene: PRRC2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635188G>C , CM000668.2:g.31635188G>C GRCh38
NC_000006.11:g.31602965G>C , CM000668.1:g.31602965G>C GRCh37
NC_000006.10:g.31710944G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5217G>C MANE Select ENSP00000365201.2:p.Gln1739His
ENST00000376007.8:c.5217G>C ENSP00000365175.4:p.Gln1739His
ENST00000376033.2:c.5217G>C ENSP00000365201.2:p.Gln1739His
ENST00000484787.1:n.628G>C
NM_004638.3:c.5217G>C NP_004629.3:p.Gln1739His
NM_080686.2:c.5217G>C NP_542417.2:p.Gln1739His
XM_011514890.1:c.5217G>C XP_011513192.1:p.Gln1739His
XM_017011274.1:c.5217G>C XP_016866763.1:p.Gln1739His
NM_004638.4:c.5217G>C MANE Select NP_004629.3:p.Gln1739His
NM_080686.3:c.5217G>C NP_542417.2:p.Gln1739His