Canonical Allele Identifier: CA449796869
Gene: PRRC2A HGNC NCBI

Linked Data

gnomAD v4: 6-31635230-C-G
MyVariant Identifiers: chr6:g.31603007C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635230C>G , CM000668.2:g.31635230C>G GRCh38
NC_000006.11:g.31603007C>G , CM000668.1:g.31603007C>G GRCh37
NC_000006.10:g.31710986C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5259C>G MANE Select ENSP00000365201.2:p.Ser1753=
ENST00000376007.8:c.5259C>G ENSP00000365175.4:p.Ser1753=
ENST00000376033.2:c.5259C>G ENSP00000365201.2:p.Ser1753=
ENST00000484787.1:n.670C>G
NM_004638.3:c.5259C>G NP_004629.3:p.Ser1753=
NM_080686.2:c.5259C>G NP_542417.2:p.Ser1753=
XM_011514890.1:c.5259C>G XP_011513192.1:p.Ser1753=
XM_017011274.1:c.5259C>G XP_016866763.1:p.Ser1753=
NM_004638.4:c.5259C>G MANE Select NP_004629.3:p.Ser1753=
NM_080686.3:c.5259C>G NP_542417.2:p.Ser1753=