Canonical Allele Identifier: CA9754423
Gene: PROKR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 338865
ClinVar RCV Id: RCV000405604 RCV000622788 RCV000861011 RCV001699378
dbSNP Id: rs144994507
ExAC: 20:5294865 C / T
gnomAD v2: 20-5294865-C-T
gnomAD v3: 20-5314219-C-T
gnomAD v4: 20-5314219-C-T
MyVariant Identifiers: chr20:g.5294865C>T (hg19) chr20:g.5314219C>T (hg38)
PubMed: PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:22466334 PMID:22927827 PMID:23386640 PMID:23533228 PMID:23596439 PMID:24031091
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314219C>T , CM000682.2:g.5314219C>T GRCh38
NC_000020.10:g.5294865C>T , CM000682.1:g.5294865C>T GRCh37
NC_000020.9:g.5242865C>T NCBI36
NG_008132.1:g.5151G>A
NG_008132.2:g.5151G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000217270.4:c.151G>A ENSP00000217270.3:p.Ala51Thr
ENST00000678059.1:c.43G>A ENSP00000503366.1:p.Ala15Thr
ENST00000678254.1:c.151G>A MANE Select ENSP00000504128.1:p.Ala51Thr
ENST00000217270.3:c.151G>A ENSP00000217270.3:p.Ala51Thr
NM_144773.2:c.151G>A NP_658986.1:p.Ala51Thr
XM_005260663.2:c.151G>A XP_005260720.1:p.Ala51Thr
XM_011529159.1:c.43G>A XP_011527461.1:p.Ala15Thr
NM_144773.3:c.151G>A NP_658986.1:p.Ala51Thr
XM_017027646.1:c.151G>A XP_016883135.1:p.Ala51Thr
NM_144773.4:c.151G>A MANE Select NP_658986.1:p.Ala51Thr
Search 100 bp 5'
Search 100 bp 3'