Canonical Allele Identifier: CA3716445
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1046089
gnomAD v2: 6-31602967-G-A
gnomAD v3: 6-31635190-G-A
gnomAD v4: 6-31635190-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635190G>A , CM000668.2:g.31635190G>A GRCh38
NC_000006.11:g.31602967G>A , CM000668.1:g.31602967G>A GRCh37
NC_000006.10:g.31710946G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000376033.3:c.5219G>A MANE Select ENSP00000365201.2:p.Arg1740His
ENST00000376007.8:c.5219G>A ENSP00000365175.4:p.Arg1740His
ENST00000376033.2:c.5219G>A ENSP00000365201.2:p.Arg1740His
ENST00000484787.1:n.630G>A
NM_004638.3:c.5219G>A NP_004629.3:p.Arg1740His
NM_080686.2:c.5219G>A NP_542417.2:p.Arg1740His
XM_011514890.1:c.5219G>A XP_011513192.1:p.Arg1740His
XM_017011274.1:c.5219G>A XP_016866763.1:p.Arg1740His
NM_004638.4:c.5219G>A MANE Select NP_004629.3:p.Arg1740His
NM_080686.3:c.5219G>A NP_542417.2:p.Arg1740His