Canonical Allele Identifier: CA363367254
Gene: PRRC2A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31636267T>A
GRCh37 chr6:g.31604044T>A
Revel Score:
ENST00000424184 0.159
ENST00000435052 0.159
ENST00000376007 0.159
ENST00000376033 (MANE Select) 0.159
ENST00000376010 0.159
dbSNP:
3132453
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31636267T>A , CM000668.2:g.31636267T>A GRCh38
NC_000006.11:g.31604044T>A , CM000668.1:g.31604044T>A GRCh37
NC_000006.10:g.31712023T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000376033.3:c.5683T>A MANE Select ENSP00000365201.2:p.Leu1895Ile
ENST00000376007.8:c.5683T>A ENSP00000365175.4:p.Leu1895Ile
ENST00000376033.2:c.5683T>A ENSP00000365201.2:p.Leu1895Ile
ENST00000487839.1:n.617T>A
ENST00000492691.5:n.21T>A
NM_004638.3:c.5683T>A NP_004629.3:p.Leu1895Ile
NM_080686.2:c.5683T>A NP_542417.2:p.Leu1895Ile
XM_011514890.1:c.5683T>A XP_011513192.1:p.Leu1895Ile
XM_017011274.1:c.5683T>A XP_016866763.1:p.Leu1895Ile
NM_004638.4:c.5683T>A MANE Select NP_004629.3:p.Leu1895Ile
NM_080686.3:c.5683T>A NP_542417.2:p.Leu1895Ile
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