Canonical Allele Identifier: CA509568720
Gene: PROKR2 HGNC NCBI

Linked Data

dbSNP Id: rs1214562734
gnomAD v2: 20-5294941-G-A
gnomAD v3: 20-5314295-G-A
gnomAD v4: 20-5314295-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5314295G>A , CM000682.2:g.5314295G>A GRCh38
NC_000020.10:g.5294941G>A , CM000682.1:g.5294941G>A GRCh37
NC_000020.9:g.5242941G>A NCBI36
NG_008132.1:g.5075C>T
NG_008132.2:g.5075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217270.4:c.75C>T ENSP00000217270.3:p.Ser25=
ENST00000678059.1:c.-22-12C>T ENSP00000503366.1:n.-22-12C>T
ENST00000678254.1:c.75C>T MANE Select ENSP00000504128.1:p.Ser25=
ENST00000217270.3:c.75C>T ENSP00000217270.3:p.Ser25=
NM_144773.2:c.75C>T NP_658986.1:p.Ser25=
XM_005260663.2:c.75C>T XP_005260720.1:p.Ser25=
XM_011529159.1:c.-22-12C>T XP_011527461.1:n.-22-12C>T
NM_144773.3:c.75C>T NP_658986.1:p.Ser25=
XM_017027646.1:c.75C>T XP_016883135.1:p.Ser25=
NM_144773.4:c.75C>T MANE Select NP_658986.1:p.Ser25=