Canonical Allele Identifier: CA259600
Gene: PROKR2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.5302566T>C
GRCh37 chr20:g.5283212T>C
Revel Score:
ENST00000546004 0.457
ENST00000217270 0.457
gnomAD v2:
20:5283212 T / C
gnomAD v3:
20:5302566 T / C
gnomAD v4:
chr20-5302566-T-C
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000022407
RCV001797584
ClinVar Variation:
3450
dbSNP:
74315417
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5302566T>C , CM000682.2:g.5302566T>C GRCh38
NC_000020.10:g.5283212T>C , CM000682.1:g.5283212T>C GRCh37
NC_000020.9:g.5231212T>C NCBI36
NG_008132.1:g.16804A>G
NG_008132.2:g.16804A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.629A>G ENSP00000217270.3:p.Gln210Arg
ENST00000678059.1:c.521A>G ENSP00000503366.1:p.Gln174Arg
ENST00000678254.1:c.629A>G MANE Select ENSP00000504128.1:p.Gln210Arg
ENST00000217270.3:c.629A>G ENSP00000217270.3:p.Gln210Arg
NM_144773.2:c.629A>G NP_658986.1:p.Gln210Arg
XM_005260663.2:c.629A>G XP_005260720.1:p.Gln210Arg
XM_011529159.1:c.521A>G XP_011527461.1:p.Gln174Arg
NM_144773.3:c.629A>G NP_658986.1:p.Gln210Arg
XM_017027646.1:c.629A>G XP_016883135.1:p.Gln210Arg
NM_144773.4:c.629A>G MANE Select NP_658986.1:p.Gln210Arg
Search 100 bp 5'
Search 100 bp 3'