Canonical Allele Identifier: CA408168422

Gene: PROKR2

Linked Data

• dbSNP Id: rs376513173
• gnomAD v3: 20-5314280-A-C
• gnomAD v4: 20-5314280-A-C
• MyVariant Identifiers: chr20:g.5294926A>C (hg19) ; chr20:g.5314280A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.5314280A>C , CM000682.2:g.5314280A>C	GRCh38
NC_000020.10:g.5294926A>C , CM000682.1:g.5294926A>C	GRCh37
NC_000020.9:g.5242926A>C	NCBI36
NG_008132.1:g.5090T>G
NG_008132.2:g.5090T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217270.4:c.90T>G	ENSP00000217270.3:p.Tyr30Ter
ENST00000678059.1:c.-19T>G	ENSP00000503366.1:n.-19T>G
ENST00000678254.1:c.90T>G MANE Select	ENSP00000504128.1:p.Tyr30Ter
ENST00000217270.3:c.90T>G	ENSP00000217270.3:p.Tyr30Ter
NM_144773.2:c.90T>G	NP_658986.1:p.Tyr30Ter
XM_005260663.2:c.90T>G	XP_005260720.1:p.Tyr30Ter
XM_011529159.1:c.-19T>G	XP_011527461.1:n.-19T>G
NM_144773.3:c.90T>G	NP_658986.1:p.Tyr30Ter
XM_017027646.1:c.90T>G	XP_016883135.1:p.Tyr30Ter
NM_144773.4:c.90T>G MANE Select	NP_658986.1:p.Tyr30Ter