Canonical Allele Identifier: CA363364509
Gene: PRRC2A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5165T>A MANE Select ENSP00000365201.2:p.Leu1722Gln
ENST00000376007.8:c.5165T>A ENSP00000365175.4:p.Leu1722Gln
ENST00000376033.2:c.5165T>A ENSP00000365201.2:p.Leu1722Gln
ENST00000484787.1:n.576T>A
NM_004638.3:c.5165T>A NP_004629.3:p.Leu1722Gln
NM_080686.2:c.5165T>A NP_542417.2:p.Leu1722Gln
XM_011514890.1:c.5165T>A XP_011513192.1:p.Leu1722Gln
XM_017011274.1:c.5165T>A XP_016866763.1:p.Leu1722Gln
NM_004638.4:c.5165T>A MANE Select NP_004629.3:p.Leu1722Gln
NM_080686.3:c.5165T>A NP_542417.2:p.Leu1722Gln