Canonical Allele Identifier: CA1087463023
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1583176633
gnomAD v3: 6-31622994-A-G
gnomAD v4: 6-31622994-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622994A>G , CM000668.2:g.31622994A>G GRCh38
NC_000006.11:g.31590771A>G , CM000668.1:g.31590771A>G GRCh37
NC_000006.10:g.31698750A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.112+93A>G MANE Select ENSP00000365201.2:n.112+93A>G
ENST00000376007.8:c.112+93A>G ENSP00000365175.4:n.112+93A>G
ENST00000376033.2:c.112+93A>G ENSP00000365201.2:n.112+93A>G
ENST00000469577.5:n.136-1267A>G
NM_004638.3:c.112+93A>G NP_004629.3:n.112+93A>G
NM_080686.2:c.112+93A>G NP_542417.2:n.112+93A>G
XM_011514890.1:c.112+93A>G XP_011513192.1:n.112+93A>G
XM_017011274.1:c.112+93A>G XP_016866763.1:n.112+93A>G
NM_004638.4:c.112+93A>G MANE Select NP_004629.3:n.112+93A>G
NM_080686.3:c.112+93A>G NP_542417.2:n.112+93A>G