Canonical Allele Identifier: CA9754426
Gene: PROKR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2054258
ClinVar RCV Id: RCV002927856
dbSNP Id: rs548595273
ExAC: 20:5294876 C / T
gnomAD v2: 20-5294876-C-T
gnomAD v3: 20-5314230-C-T
gnomAD v4: 20-5314230-C-T
MyVariant Identifiers: chr20:g.5294876C>T (hg19) chr20:g.5314230C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314230C>T , CM000682.2:g.5314230C>T GRCh38
NC_000020.10:g.5294876C>T , CM000682.1:g.5294876C>T GRCh37
NC_000020.9:g.5242876C>T NCBI36
NG_008132.1:g.5140G>A
NG_008132.2:g.5140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.140G>A ENSP00000217270.3:p.Arg47Gln
ENST00000678059.1:c.32G>A ENSP00000503366.1:p.Arg11Gln
ENST00000678254.1:c.140G>A MANE Select ENSP00000504128.1:p.Arg47Gln
ENST00000217270.3:c.140G>A ENSP00000217270.3:p.Arg47Gln
NM_144773.2:c.140G>A NP_658986.1:p.Arg47Gln
XM_005260663.2:c.140G>A XP_005260720.1:p.Arg47Gln
XM_011529159.1:c.32G>A XP_011527461.1:p.Arg11Gln
NM_144773.3:c.140G>A NP_658986.1:p.Arg47Gln
XM_017027646.1:c.140G>A XP_016883135.1:p.Arg47Gln
NM_144773.4:c.140G>A MANE Select NP_658986.1:p.Arg47Gln
Search 100 bp 5'
Search 100 bp 3'