Canonical Allele Identifier: CA9754434

Gene: PROKR2

Linked Data

• dbSNP Id: rs200262756
• ExAC: 20:5294899 C / T
• gnomAD v2: 20-5294899-C-T
• gnomAD v3: 20-5314253-C-T
• gnomAD v4: 20-5314253-C-T
• MyVariant Identifiers: chr20:g.5294899C>T (hg19) ; chr20:g.5314253C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314253C>T , CM000682.2:g.5314253C>T	GRCh38
NC_000020.10:g.5294899C>T , CM000682.1:g.5294899C>T	GRCh37
NC_000020.9:g.5242899C>T	NCBI36
NG_008132.1:g.5117G>A
NG_008132.2:g.5117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.117G>A	ENSP00000217270.3:p.Glu39=
ENST00000678059.1:c.9G>A	ENSP00000503366.1:p.Glu3=
ENST00000678254.1:c.117G>A MANE Select	ENSP00000504128.1:p.Glu39=
ENST00000217270.3:c.117G>A	ENSP00000217270.3:p.Glu39=
NM_144773.2:c.117G>A	NP_658986.1:p.Glu39=
XM_005260663.2:c.117G>A	XP_005260720.1:p.Glu39=
XM_011529159.1:c.9G>A	XP_011527461.1:p.Glu3=
NM_144773.3:c.117G>A	NP_658986.1:p.Glu39=
XM_017027646.1:c.117G>A	XP_016883135.1:p.Glu39=
NM_144773.4:c.117G>A MANE Select	NP_658986.1:p.Glu39=