Canonical Allele Identifier: CA509568695
Gene: PROKR2 HGNC NCBI

Linked Data

dbSNP Id: rs1568573438
gnomAD v4: 20-5314256-A-G
MyVariant Identifiers: chr20:g.5294902A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314256A>G , CM000682.2:g.5314256A>G GRCh38
NC_000020.10:g.5294902A>G , CM000682.1:g.5294902A>G GRCh37
NC_000020.9:g.5242902A>G NCBI36
NG_008132.1:g.5114T>C
NG_008132.2:g.5114T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.114T>C ENSP00000217270.3:p.Asp38=
ENST00000678059.1:c.6T>C ENSP00000503366.1:p.Asp2=
ENST00000678254.1:c.114T>C MANE Select ENSP00000504128.1:p.Asp38=
ENST00000217270.3:c.114T>C ENSP00000217270.3:p.Asp38=
NM_144773.2:c.114T>C NP_658986.1:p.Asp38=
XM_005260663.2:c.114T>C XP_005260720.1:p.Asp38=
XM_011529159.1:c.6T>C XP_011527461.1:p.Asp2=
NM_144773.3:c.114T>C NP_658986.1:p.Asp38=
XM_017027646.1:c.114T>C XP_016883135.1:p.Asp38=
NM_144773.4:c.114T>C MANE Select NP_658986.1:p.Asp38=