Canonical Allele Identifier: CA1592259
Gene: PCARE HGNC NCBI
ClinVar RCV:
RCV001138932
RCV001856782
ClinVar Variation:
896341
dbSNP:
746749375
gnomAD v2:
2:29294931 T / G
gnomAD v3:
2:29072065 T / G
gnomAD v4:
chr2-29072065-T-G
Joint Max Group AF 0.0000122 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001213 (NFE)
MyVariant.info:
GRCh38 chr2:g.29072065T>G
GRCh37 chr2:g.29294931T>G
Revel Score:
ENST00000331664 (MANE Select) 0.174
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072065T>G , CM000664.2:g.29072065T>G GRCh38
NC_000002.11:g.29294931T>G , CM000664.1:g.29294931T>G GRCh37
NC_000002.10:g.29148435T>G NCBI36
NG_021427.1:g.7197A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.2197A>C MANE Select ENSP00000332809.4:p.Lys733Gln
ENST00000331664.5:c.2197A>C ENSP00000332809.4:p.Lys733Gln
NM_001029883.2:c.2197A>C NP_001025054.1:p.Lys733Gln
XM_011532826.1:c.2197A>C XP_011531128.1:p.Lys733Gln
XR_939901.1:n.185+2898T>G
XR_939902.1:n.173+2910T>G
NM_001029883.3:c.2197A>C MANE Select NP_001025054.1:p.Lys733Gln
Search 100 bp 5'
Search 100 bp 3'