Canonical Allele Identifier: CA449661951
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622813-T-C
MyVariant Identifiers: chr6:g.31590590T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622813T>C , CM000668.2:g.31622813T>C GRCh38
NC_000006.11:g.31590590T>C , CM000668.1:g.31590590T>C GRCh37
NC_000006.10:g.31698569T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706625.1:c.40T>C ENSP00000516471.1:p.Cys14Arg
ENST00000376033.3:c.24T>C MANE Select ENSP00000365201.2:p.Thr8=
ENST00000376007.8:c.24T>C ENSP00000365175.4:p.Thr8=
ENST00000376033.2:c.24T>C ENSP00000365201.2:p.Thr8=
ENST00000469577.5:n.136-1448T>C
NM_004638.3:c.24T>C NP_004629.3:p.Thr8=
NM_080686.2:c.24T>C NP_542417.2:p.Thr8=
XM_011514890.1:c.24T>C XP_011513192.1:p.Thr8=
XM_017011274.1:c.24T>C XP_016866763.1:p.Thr8=
NM_004638.4:c.24T>C MANE Select NP_004629.3:p.Thr8=
NM_080686.3:c.24T>C NP_542417.2:p.Thr8=