Canonical Allele Identifier: CA566355398
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1297885070
gnomAD v2: 6-31590558-T-G
gnomAD v4: 6-31622781-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622781T>G , CM000668.2:g.31622781T>G GRCh38
NC_000006.11:g.31590558T>G , CM000668.1:g.31590558T>G GRCh37
NC_000006.10:g.31698537T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.8T>G ENSP00000516471.1:p.Phe3Cys
ENST00000376033.3:c.-9T>G MANE Select ENSP00000365201.2:n.-9T>G
ENST00000376007.8:c.-9T>G ENSP00000365175.4:n.-9T>G
ENST00000376033.2:c.-9T>G ENSP00000365201.2:n.-9T>G
ENST00000469577.5:n.136-1480T>G
NM_004638.3:c.-9T>G NP_004629.3:n.-9T>G
NM_080686.2:c.-9T>G NP_542417.2:n.-9T>G
XM_011514890.1:c.-9T>G XP_011513192.1:n.-9T>G
NM_004638.4:c.-9T>G MANE Select NP_004629.3:n.-9T>G
NM_080686.3:c.-9T>G NP_542417.2:n.-9T>G