Canonical Allele Identifier: CA2740096992
Gene: PROKR2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5313981del , CM000682.2:g.5313981del GRCh38
NC_000020.10:g.5294627del , CM000682.1:g.5294627del GRCh37
NC_000020.9:g.5242627del NCBI36
NG_008132.1:g.5390del
NG_008132.2:g.5390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.390del ENSP00000217270.3:p.Val131SerfsTer?
ENST00000678059.1:c.282del ENSP00000503366.1:p.Val95SerfsTer?
ENST00000678254.1:c.390del MANE Select ENSP00000504128.1:p.Val131SerfsTer?
ENST00000217270.3:c.390del ENSP00000217270.3:p.Val131SerfsTer?
NM_144773.2:c.390del NP_658986.1:p.Val131SerfsTer?
XM_005260663.2:c.390del XP_005260720.1:p.Val131SerfsTer?
XM_011529159.1:c.282del XP_011527461.1:p.Val95SerfsTer?
NM_144773.3:c.390del NP_658986.1:p.Val131SerfsTer?
XM_017027646.1:c.390del XP_016883135.1:p.Val131SerfsTer?
NM_144773.4:c.390del MANE Select NP_658986.1:p.Val131SerfsTer?