Canonical Allele Identifier: CA2578565737
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31622740-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31622740T>C , CM000668.2:g.31622740T>C GRCh38
NC_000006.11:g.31590517T>C , CM000668.1:g.31590517T>C GRCh37
NC_000006.10:g.31698496T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.-50T>C MANE Select ENSP00000365201.2:n.-50T>C
ENST00000376007.8:c.-50T>C ENSP00000365175.4:n.-50T>C
ENST00000376033.2:c.-50T>C ENSP00000365201.2:n.-50T>C
ENST00000469577.5:n.136-1521T>C
NM_004638.3:c.-50T>C NP_004629.3:n.-50T>C
NM_080686.2:c.-50T>C NP_542417.2:n.-50T>C
XM_011514890.1:c.-50T>C XP_011513192.1:n.-50T>C
NM_004638.4:c.-50T>C MANE Select NP_004629.3:n.-50T>C
NM_080686.3:c.-50T>C NP_542417.2:n.-50T>C