Canonical Allele Identifier: CA10590049

Gene: PROKR2

Linked Data

• ClinVar Variation Id: 267202
• ClinVar RCV Id: RCV000256868
• dbSNP Id: rs886037916
• MyVariant Identifiers: chr20:g.5294919A>G (hg19) ; chr20:g.5314273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314273A>G , CM000682.2:g.5314273A>G	GRCh38
NC_000020.10:g.5294919A>G , CM000682.1:g.5294919A>G	GRCh37
NC_000020.9:g.5242919A>G	NCBI36
NG_008132.1:g.5097T>C
NG_008132.2:g.5097T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.97T>C	ENSP00000217270.3:p.Tyr33His
ENST00000678059.1:c.-12T>C	ENSP00000503366.1:n.-12T>C
ENST00000678254.1:c.97T>C MANE Select	ENSP00000504128.1:p.Tyr33His
ENST00000217270.3:c.97T>C	ENSP00000217270.3:p.Tyr33His
NM_144773.2:c.97T>C	NP_658986.1:p.Tyr33His
XM_005260663.2:c.97T>C	XP_005260720.1:p.Tyr33His
XM_011529159.1:c.-12T>C	XP_011527461.1:n.-12T>C
NM_144773.3:c.97T>C	NP_658986.1:p.Tyr33His
XM_017027646.1:c.97T>C	XP_016883135.1:p.Tyr33His
NM_144773.4:c.97T>C MANE Select	NP_658986.1:p.Tyr33His