Canonical Allele Identifier: CA408168302
Gene: PROKR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314227G>A , CM000682.2:g.5314227G>A GRCh38
NC_000020.10:g.5294873G>A , CM000682.1:g.5294873G>A GRCh37
NC_000020.9:g.5242873G>A NCBI36
NG_008132.1:g.5143C>T
NG_008132.2:g.5143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.143C>T ENSP00000217270.3:p.Thr48Ile
ENST00000678059.1:c.35C>T ENSP00000503366.1:p.Thr12Ile
ENST00000678254.1:c.143C>T MANE Select ENSP00000504128.1:p.Thr48Ile
ENST00000217270.3:c.143C>T ENSP00000217270.3:p.Thr48Ile
NM_144773.2:c.143C>T NP_658986.1:p.Thr48Ile
XM_005260663.2:c.143C>T XP_005260720.1:p.Thr48Ile
XM_011529159.1:c.35C>T XP_011527461.1:p.Thr12Ile
NM_144773.3:c.143C>T NP_658986.1:p.Thr48Ile
XM_017027646.1:c.143C>T XP_016883135.1:p.Thr48Ile
NM_144773.4:c.143C>T MANE Select NP_658986.1:p.Thr48Ile