Canonical Allele Identifier: CA136852427
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs986483997
gnomAD v2: 6-31590581-G-A
gnomAD v4: 6-31622804-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622804G>A , CM000668.2:g.31622804G>A GRCh38
NC_000006.11:g.31590581G>A , CM000668.1:g.31590581G>A GRCh37
NC_000006.10:g.31698560G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.31G>A ENSP00000516471.1:p.Gly11Arg
ENST00000376033.3:c.15G>A MANE Select ENSP00000365201.2:p.Ser5=
ENST00000376007.8:c.15G>A ENSP00000365175.4:p.Ser5=
ENST00000376033.2:c.15G>A ENSP00000365201.2:p.Ser5=
ENST00000469577.5:n.136-1457G>A
NM_004638.3:c.15G>A NP_004629.3:p.Ser5=
NM_080686.2:c.15G>A NP_542417.2:p.Ser5=
XM_011514890.1:c.15G>A XP_011513192.1:p.Ser5=
XM_017011274.1:c.15G>A XP_016866763.1:p.Ser5=
NM_004638.4:c.15G>A MANE Select NP_004629.3:p.Ser5=
NM_080686.3:c.15G>A NP_542417.2:p.Ser5=