Canonical Allele Identifier: CA3716443
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs374300121
gnomAD v2: 6-31602958-G-A
gnomAD v3: 6-31635181-G-A
gnomAD v4: 6-31635181-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635181G>A , CM000668.2:g.31635181G>A GRCh38
NC_000006.11:g.31602958G>A , CM000668.1:g.31602958G>A GRCh37
NC_000006.10:g.31710937G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5210G>A MANE Select ENSP00000365201.2:p.Arg1737Gln
ENST00000376007.8:c.5210G>A ENSP00000365175.4:p.Arg1737Gln
ENST00000376033.2:c.5210G>A ENSP00000365201.2:p.Arg1737Gln
ENST00000484787.1:n.621G>A
NM_004638.3:c.5210G>A NP_004629.3:p.Arg1737Gln
NM_080686.2:c.5210G>A NP_542417.2:p.Arg1737Gln
XM_011514890.1:c.5210G>A XP_011513192.1:p.Arg1737Gln
XM_017011274.1:c.5210G>A XP_016866763.1:p.Arg1737Gln
NM_004638.4:c.5210G>A MANE Select NP_004629.3:p.Arg1737Gln
NM_080686.3:c.5210G>A NP_542417.2:p.Arg1737Gln