Canonical Allele Identifier: CA3716444
Gene: PRRC2A HGNC NCBI

Linked Data

dbSNP Id: rs754701123
ExAC: 6:31602966 C / T
gnomAD v2: 6-31602966-C-T
gnomAD v3: 6-31635189-C-T
gnomAD v4: 6-31635189-C-T
MyVariant Identifiers: chr6:g.31602966C>T (hg19) chr6:g.31635189C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635189C>T , CM000668.2:g.31635189C>T GRCh38
NC_000006.11:g.31602966C>T , CM000668.1:g.31602966C>T GRCh37
NC_000006.10:g.31710945C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5218C>T MANE Select ENSP00000365201.2:p.Arg1740Cys
ENST00000376007.8:c.5218C>T ENSP00000365175.4:p.Arg1740Cys
ENST00000376033.2:c.5218C>T ENSP00000365201.2:p.Arg1740Cys
ENST00000484787.1:n.629C>T
NM_004638.3:c.5218C>T NP_004629.3:p.Arg1740Cys
NM_080686.2:c.5218C>T NP_542417.2:p.Arg1740Cys
XM_011514890.1:c.5218C>T XP_011513192.1:p.Arg1740Cys
XM_017011274.1:c.5218C>T XP_016866763.1:p.Arg1740Cys
NM_004638.4:c.5218C>T MANE Select NP_004629.3:p.Arg1740Cys
NM_080686.3:c.5218C>T NP_542417.2:p.Arg1740Cys
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