Canonical Allele Identifier: CA363364824
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs1352735788
gnomAD v2: 6-31603011-C-G
gnomAD v3: 6-31635234-C-G
gnomAD v4: 6-31635234-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635234C>G , CM000668.2:g.31635234C>G GRCh38
NC_000006.11:g.31603011C>G , CM000668.1:g.31603011C>G GRCh37
NC_000006.10:g.31710990C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5263C>G MANE Select ENSP00000365201.2:p.Arg1755Gly
ENST00000376007.8:c.5263C>G ENSP00000365175.4:p.Arg1755Gly
ENST00000376033.2:c.5263C>G ENSP00000365201.2:p.Arg1755Gly
ENST00000484787.1:n.674C>G
NM_004638.3:c.5263C>G NP_004629.3:p.Arg1755Gly
NM_080686.2:c.5263C>G NP_542417.2:p.Arg1755Gly
XM_011514890.1:c.5263C>G XP_011513192.1:p.Arg1755Gly
XM_017011274.1:c.5263C>G XP_016866763.1:p.Arg1755Gly
NM_004638.4:c.5263C>G MANE Select NP_004629.3:p.Arg1755Gly
NM_080686.3:c.5263C>G NP_542417.2:p.Arg1755Gly