Canonical Allele Identifier: CA363364798
Gene: PRRC2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635220T>C , CM000668.2:g.31635220T>C GRCh38
NC_000006.11:g.31602997T>C , CM000668.1:g.31602997T>C GRCh37
NC_000006.10:g.31710976T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5249T>C MANE Select ENSP00000365201.2:p.Ile1750Thr
ENST00000376007.8:c.5249T>C ENSP00000365175.4:p.Ile1750Thr
ENST00000376033.2:c.5249T>C ENSP00000365201.2:p.Ile1750Thr
ENST00000484787.1:n.660T>C
NM_004638.3:c.5249T>C NP_004629.3:p.Ile1750Thr
NM_080686.2:c.5249T>C NP_542417.2:p.Ile1750Thr
XM_011514890.1:c.5249T>C XP_011513192.1:p.Ile1750Thr
XM_017011274.1:c.5249T>C XP_016866763.1:p.Ile1750Thr
NM_004638.4:c.5249T>C MANE Select NP_004629.3:p.Ile1750Thr
NM_080686.3:c.5249T>C NP_542417.2:p.Ile1750Thr