Canonical Allele Identifier: CA363330885
Gene: PRRC2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622792G>T , CM000668.2:g.31622792G>T GRCh38
NC_000006.11:g.31590569G>T , CM000668.1:g.31590569G>T GRCh37
NC_000006.10:g.31698548G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.19G>T ENSP00000516471.1:p.Val7Phe
ENST00000376033.3:c.3G>T MANE Select ENSP00000365201.2:p.Met1Ile
ENST00000376007.8:c.3G>T ENSP00000365175.4:p.Met1Ile
ENST00000376033.2:c.3G>T ENSP00000365201.2:p.Met1Ile
ENST00000469577.5:n.136-1469G>T
NM_004638.3:c.3G>T NP_004629.3:p.Met1Ile
NM_080686.2:c.3G>T NP_542417.2:p.Met1Ile
XM_011514890.1:c.3G>T XP_011513192.1:p.Met1Ile
XM_017011274.1:c.3G>T XP_016866763.1:p.Met1Ile
NM_004638.4:c.3G>T MANE Select NP_004629.3:p.Met1Ile
NM_080686.3:c.3G>T NP_542417.2:p.Met1Ile