Canonical Allele Identifier: CA1087468191
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1777195873
gnomAD v3: 6-31635285-T-C
gnomAD v4: 6-31635285-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635285T>C , CM000668.2:g.31635285T>C GRCh38
NC_000006.11:g.31603062T>C , CM000668.1:g.31603062T>C GRCh37
NC_000006.10:g.31711041T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5301+13T>C MANE Select ENSP00000365201.2:n.5301+13T>C
ENST00000376007.8:c.5301+13T>C ENSP00000365175.4:n.5301+13T>C
ENST00000376033.2:c.5301+13T>C ENSP00000365201.2:n.5301+13T>C
ENST00000469501.1:n.31+13T>C
ENST00000484787.1:n.725T>C
NM_004638.3:c.5301+13T>C NP_004629.3:n.5301+13T>C
NM_080686.2:c.5301+13T>C NP_542417.2:n.5301+13T>C
XM_011514890.1:c.5301+13T>C XP_011513192.1:n.5301+13T>C
XM_017011274.1:c.5301+13T>C XP_016866763.1:n.5301+13T>C
NM_004638.4:c.5301+13T>C MANE Select NP_004629.3:n.5301+13T>C
NM_080686.3:c.5301+13T>C NP_542417.2:n.5301+13T>C