Canonical Allele Identifier: CA363331701
Gene: PRRC2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622848T>C , CM000668.2:g.31622848T>C GRCh38
NC_000006.11:g.31590625T>C , CM000668.1:g.31590625T>C GRCh37
NC_000006.10:g.31698604T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.75T>C ENSP00000516471.1:p.Ala25=
ENST00000376033.3:c.59T>C MANE Select ENSP00000365201.2:p.Leu20Pro
ENST00000376007.8:c.59T>C ENSP00000365175.4:p.Leu20Pro
ENST00000376033.2:c.59T>C ENSP00000365201.2:p.Leu20Pro
ENST00000469577.5:n.136-1413T>C
NM_004638.3:c.59T>C NP_004629.3:p.Leu20Pro
NM_080686.2:c.59T>C NP_542417.2:p.Leu20Pro
XM_011514890.1:c.59T>C XP_011513192.1:p.Leu20Pro
XM_017011274.1:c.59T>C XP_016866763.1:p.Leu20Pro
NM_004638.4:c.59T>C MANE Select NP_004629.3:p.Leu20Pro
NM_080686.3:c.59T>C NP_542417.2:p.Leu20Pro