Canonical Allele Identifier: CA311179214

Gene: PROKR2

Linked Data

• dbSNP Id: rs373511474
• gnomAD v3: 20-5314238-G-C
• gnomAD v4: 20-5314238-G-C
• MyVariant Identifiers: chr20:g.5294884G>C (hg19) ; chr20:g.5314238G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314238G>C , CM000682.2:g.5314238G>C	GRCh38
NC_000020.10:g.5294884G>C , CM000682.1:g.5294884G>C	GRCh37
NC_000020.9:g.5242884G>C	NCBI36
NG_008132.1:g.5132C>G
NG_008132.2:g.5132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.132C>G	ENSP00000217270.3:p.Thr44=
ENST00000678059.1:c.24C>G	ENSP00000503366.1:p.Thr8=
ENST00000678254.1:c.132C>G MANE Select	ENSP00000504128.1:p.Thr44=
ENST00000217270.3:c.132C>G	ENSP00000217270.3:p.Thr44=
NM_144773.2:c.132C>G	NP_658986.1:p.Thr44=
XM_005260663.2:c.132C>G	XP_005260720.1:p.Thr44=
XM_011529159.1:c.24C>G	XP_011527461.1:p.Thr8=
NM_144773.3:c.132C>G	NP_658986.1:p.Thr44=
XM_017027646.1:c.132C>G	XP_016883135.1:p.Thr44=
NM_144773.4:c.132C>G MANE Select	NP_658986.1:p.Thr44=