Canonical Allele Identifier: CA363364794
Gene: PRRC2A HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.31602996A>C (hg19) chr6:g.31635219A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31635219A>C , CM000668.2:g.31635219A>C GRCh38
NC_000006.11:g.31602996A>C , CM000668.1:g.31602996A>C GRCh37
NC_000006.10:g.31710975A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5248A>C MANE Select ENSP00000365201.2:p.Ile1750Leu
ENST00000376007.8:c.5248A>C ENSP00000365175.4:p.Ile1750Leu
ENST00000376033.2:c.5248A>C ENSP00000365201.2:p.Ile1750Leu
ENST00000484787.1:n.659A>C
NM_004638.3:c.5248A>C NP_004629.3:p.Ile1750Leu
NM_080686.2:c.5248A>C NP_542417.2:p.Ile1750Leu
XM_011514890.1:c.5248A>C XP_011513192.1:p.Ile1750Leu
XM_017011274.1:c.5248A>C XP_016866763.1:p.Ile1750Leu
NM_004638.4:c.5248A>C MANE Select NP_004629.3:p.Ile1750Leu
NM_080686.3:c.5248A>C NP_542417.2:p.Ile1750Leu
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