Canonical Allele Identifier: CA408168292
Gene: PROKR2 HGNC NCBI

Linked Data

dbSNP Id: rs2122223133

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314222A>G , CM000682.2:g.5314222A>G GRCh38
NC_000020.10:g.5294868A>G , CM000682.1:g.5294868A>G GRCh37
NC_000020.9:g.5242868A>G NCBI36
NG_008132.1:g.5148T>C
NG_008132.2:g.5148T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.148T>C ENSP00000217270.3:p.Phe50Leu
ENST00000678059.1:c.40T>C ENSP00000503366.1:p.Phe14Leu
ENST00000678254.1:c.148T>C MANE Select ENSP00000504128.1:p.Phe50Leu
ENST00000217270.3:c.148T>C ENSP00000217270.3:p.Phe50Leu
NM_144773.2:c.148T>C NP_658986.1:p.Phe50Leu
XM_005260663.2:c.148T>C XP_005260720.1:p.Phe50Leu
XM_011529159.1:c.40T>C XP_011527461.1:p.Phe14Leu
NM_144773.3:c.148T>C NP_658986.1:p.Phe50Leu
XM_017027646.1:c.148T>C XP_016883135.1:p.Phe50Leu
NM_144773.4:c.148T>C MANE Select NP_658986.1:p.Phe50Leu