Canonical Allele Identifier: CA509568707
Gene: PROKR2 HGNC NCBI

Linked Data

dbSNP Id: rs1318092069
gnomAD v2: 20-5294920-A-G
gnomAD v4: 20-5314274-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314274A>G , CM000682.2:g.5314274A>G GRCh38
NC_000020.10:g.5294920A>G , CM000682.1:g.5294920A>G GRCh37
NC_000020.9:g.5242920A>G NCBI36
NG_008132.1:g.5096T>C
NG_008132.2:g.5096T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.96T>C ENSP00000217270.3:p.Asp32=
ENST00000678059.1:c.-13T>C ENSP00000503366.1:n.-13T>C
ENST00000678254.1:c.96T>C MANE Select ENSP00000504128.1:p.Asp32=
ENST00000217270.3:c.96T>C ENSP00000217270.3:p.Asp32=
NM_144773.2:c.96T>C NP_658986.1:p.Asp32=
XM_005260663.2:c.96T>C XP_005260720.1:p.Asp32=
XM_011529159.1:c.-13T>C XP_011527461.1:n.-13T>C
NM_144773.3:c.96T>C NP_658986.1:p.Asp32=
XM_017027646.1:c.96T>C XP_016883135.1:p.Asp32=
NM_144773.4:c.96T>C MANE Select NP_658986.1:p.Asp32=