Canonical Allele Identifier: CA9754444
Gene: PROKR2 HGNC NCBI

Linked Data

dbSNP Id: rs774879752
gnomAD v2: 20-5294946-G-T
gnomAD v3: 20-5314300-G-T
gnomAD v4: 20-5314300-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314300G>T , CM000682.2:g.5314300G>T GRCh38
NC_000020.10:g.5294946G>T , CM000682.1:g.5294946G>T GRCh37
NC_000020.9:g.5242946G>T NCBI36
NG_008132.1:g.5070C>A
NG_008132.2:g.5070C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.70C>A ENSP00000217270.3:p.Leu24Ile
ENST00000678059.1:c.-22-17C>A ENSP00000503366.1:n.-22-17C>A
ENST00000678254.1:c.70C>A MANE Select ENSP00000504128.1:p.Leu24Ile
ENST00000217270.3:c.70C>A ENSP00000217270.3:p.Leu24Ile
NM_144773.2:c.70C>A NP_658986.1:p.Leu24Ile
XM_005260663.2:c.70C>A XP_005260720.1:p.Leu24Ile
XM_011529159.1:c.-22-17C>A XP_011527461.1:n.-22-17C>A
NM_144773.3:c.70C>A NP_658986.1:p.Leu24Ile
XM_017027646.1:c.70C>A XP_016883135.1:p.Leu24Ile
NM_144773.4:c.70C>A MANE Select NP_658986.1:p.Leu24Ile