Canonical Allele Identifier: CA3716466
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs777481846
gnomAD v2: 6-31603054-G-C
gnomAD v4: 6-31635277-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635277G>C , CM000668.2:g.31635277G>C GRCh38
NC_000006.11:g.31603054G>C , CM000668.1:g.31603054G>C GRCh37
NC_000006.10:g.31711033G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5301+5G>C MANE Select ENSP00000365201.2:n.5301+5G>C
ENST00000376007.8:c.5301+5G>C ENSP00000365175.4:n.5301+5G>C
ENST00000376033.2:c.5301+5G>C ENSP00000365201.2:n.5301+5G>C
ENST00000469501.1:n.31+5G>C
ENST00000484787.1:n.717G>C
NM_004638.3:c.5301+5G>C NP_004629.3:n.5301+5G>C
NM_080686.2:c.5301+5G>C NP_542417.2:n.5301+5G>C
XM_011514890.1:c.5301+5G>C XP_011513192.1:n.5301+5G>C
XM_017011274.1:c.5301+5G>C XP_016866763.1:n.5301+5G>C
NM_004638.4:c.5301+5G>C MANE Select NP_004629.3:n.5301+5G>C
NM_080686.3:c.5301+5G>C NP_542417.2:n.5301+5G>C