Canonical Allele Identifier: CA238641
Gene: PCARE HGNC NCBI
COSMIC:
COSM1235886 (not active)
MyVariant.info:
GRCh38 chr2:g.29071203T>C
GRCh37 chr2:g.29294069T>C
Revel Score:
ENST00000331664 (MANE Select) 0.026
gnomAD v2:
2:29294069 T / C
gnomAD v3:
2:29071203 T / C
gnomAD v4:
chr2-29071203-T-C
Joint Max Group AF 0.00966654 (NFE)
Genomes Max Group AF 0.00910959 (NFE)
Exomes Max Group AF 0.00966788 (NFE)
ClinVar RCV:
RCV000173181
RCV001141416
ClinVar Variation:
193135
dbSNP:
200367963
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071203T>C , CM000664.2:g.29071203T>C GRCh38
NC_000002.11:g.29294069T>C , CM000664.1:g.29294069T>C GRCh37
NC_000002.10:g.29147573T>C NCBI36
NG_021427.1:g.8059A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3059A>G MANE Select ENSP00000332809.4:p.Gln1020Arg
ENST00000331664.5:c.3059A>G ENSP00000332809.4:p.Gln1020Arg
NM_001029883.2:c.3059A>G NP_001025054.1:p.Gln1020Arg
XM_011532826.1:c.3059A>G XP_011531128.1:p.Gln1020Arg
XR_939901.1:n.185+2036T>C
XR_939902.1:n.173+2048T>C
NM_001029883.3:c.3059A>G MANE Select NP_001025054.1:p.Gln1020Arg
Search 100 bp 5'
Search 100 bp 3'