Canonical Allele Identifier: CA9754395

Gene: PROKR2

Linked Data

• ClinVar Variation Id: 338863
• ClinVar RCV Id: RCV002520022
• dbSNP Id: rs74315418
• ExAC: 20:5294762 C / A
• gnomAD v2: 20-5294762-C-A
• gnomAD v3: 20-5314116-C-A
• gnomAD v4: 20-5314116-C-A
• MyVariant Identifiers: chr20:g.5294762C>A (hg19) ; chr20:g.5314116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314116C>A , CM000682.2:g.5314116C>A	GRCh38
NC_000020.10:g.5294762C>A , CM000682.1:g.5294762C>A	GRCh37
NC_000020.9:g.5242762C>A	NCBI36
NG_008132.1:g.5254G>T
NG_008132.2:g.5254G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217270.4:c.254G>T	ENSP00000217270.3:p.Arg85Leu
ENST00000678059.1:c.146G>T	ENSP00000503366.1:p.Arg49Leu
ENST00000678254.1:c.254G>T MANE Select	ENSP00000504128.1:p.Arg85Leu
ENST00000217270.3:c.254G>T	ENSP00000217270.3:p.Arg85Leu
NM_144773.2:c.254G>T	NP_658986.1:p.Arg85Leu
XM_005260663.2:c.254G>T	XP_005260720.1:p.Arg85Leu
XM_011529159.1:c.146G>T	XP_011527461.1:p.Arg49Leu
NM_144773.3:c.254G>T	NP_658986.1:p.Arg85Leu
XM_017027646.1:c.254G>T	XP_016883135.1:p.Arg85Leu
NM_144773.4:c.254G>T MANE Select	NP_658986.1:p.Arg85Leu