Canonical Allele Identifier: CA363331267
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622823-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622823A>G , CM000668.2:g.31622823A>G GRCh38
NC_000006.11:g.31590600A>G , CM000668.1:g.31590600A>G GRCh37
NC_000006.10:g.31698579A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.50A>G ENSP00000516471.1:p.Lys17Arg
ENST00000376033.3:c.34A>G MANE Select ENSP00000365201.2:p.Lys12Glu
ENST00000376007.8:c.34A>G ENSP00000365175.4:p.Lys12Glu
ENST00000376033.2:c.34A>G ENSP00000365201.2:p.Lys12Glu
ENST00000469577.5:n.136-1438A>G
NM_004638.3:c.34A>G NP_004629.3:p.Lys12Glu
NM_080686.2:c.34A>G NP_542417.2:p.Lys12Glu
XM_011514890.1:c.34A>G XP_011513192.1:p.Lys12Glu
XM_017011274.1:c.34A>G XP_016866763.1:p.Lys12Glu
NM_004638.4:c.34A>G MANE Select NP_004629.3:p.Lys12Glu
NM_080686.3:c.34A>G NP_542417.2:p.Lys12Glu