Canonical Allele Identifier: CA363364511
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31635136-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635136T>G , CM000668.2:g.31635136T>G GRCh38
NC_000006.11:g.31602913T>G , CM000668.1:g.31602913T>G GRCh37
NC_000006.10:g.31710892T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5165T>G MANE Select ENSP00000365201.2:p.Leu1722Arg
ENST00000376007.8:c.5165T>G ENSP00000365175.4:p.Leu1722Arg
ENST00000376033.2:c.5165T>G ENSP00000365201.2:p.Leu1722Arg
ENST00000484787.1:n.576T>G
NM_004638.3:c.5165T>G NP_004629.3:p.Leu1722Arg
NM_080686.2:c.5165T>G NP_542417.2:p.Leu1722Arg
XM_011514890.1:c.5165T>G XP_011513192.1:p.Leu1722Arg
XM_017011274.1:c.5165T>G XP_016866763.1:p.Leu1722Arg
NM_004638.4:c.5165T>G MANE Select NP_004629.3:p.Leu1722Arg
NM_080686.3:c.5165T>G NP_542417.2:p.Leu1722Arg