Canonical Allele Identifier: CA363332243
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622901-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622901G>A , CM000668.2:g.31622901G>A GRCh38
NC_000006.11:g.31590678G>A , CM000668.1:g.31590678G>A GRCh37
NC_000006.10:g.31698657G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.112G>A MANE Select ENSP00000365201.2:p.Val38Ile
ENST00000376007.8:c.112G>A ENSP00000365175.4:p.Val38Ile
ENST00000376033.2:c.112G>A ENSP00000365201.2:p.Val38Ile
ENST00000469577.5:n.136-1360G>A
NM_004638.3:c.112G>A NP_004629.3:p.Val38Ile
NM_080686.2:c.112G>A NP_542417.2:p.Val38Ile
XM_011514890.1:c.112G>A XP_011513192.1:p.Val38Ile
XM_017011274.1:c.112G>A XP_016866763.1:p.Val38Ile
NM_004638.4:c.112G>A MANE Select NP_004629.3:p.Val38Ile
NM_080686.3:c.112G>A NP_542417.2:p.Val38Ile