Canonical Allele Identifier: CA170932
Community Standard Title: NM_144773.4(PROKR2):c.743G>A (p.Arg248Gln)
Gene: PROKR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5302452C>T , CM000682.2:g.5302452C>T GRCh38
NC_000020.10:g.5283098C>T , CM000682.1:g.5283098C>T GRCh37
NC_000020.9:g.5231098C>T NCBI36
NG_008132.1:g.16918G>A
NG_008132.2:g.16918G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144773.4:c.743G>A MANE Select NP_658986.1:p.Arg248Gln
ENST00000678254.1:c.743G>A MANE Select ENSP00000504128.1:p.Arg248Gln
NM_144773.2:c.743G>A NP_658986.1:p.Arg248Gln
NM_144773.3:c.743G>A NP_658986.1:p.Arg248Gln
ENST00000217270.3:c.743G>A ENSP00000217270.3:p.Arg248Gln
ENST00000217270.4:c.743G>A ENSP00000217270.3:p.Arg248Gln
ENST00000678059.1:c.635G>A ENSP00000503366.1:p.Arg212Gln
XM_005260663.2:c.743G>A XP_005260720.1:p.Arg248Gln
XM_011529159.1:c.635G>A XP_011527461.1:p.Arg212Gln
XM_017027646.1:c.743G>A XP_016883135.1:p.Arg248Gln