Canonical Allele Identifier: CA1592053
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 438048
ClinVar RCV Id: RCV000504713 RCV000627266 RCV001074819 RCV001197047 RCV001352960 RCV003935321
dbSNP Id: rs367658438
ExAC: 2:29294126 C / T
gnomAD v2: 2-29294126-C-T
gnomAD v3: 2-29071260-C-T
gnomAD v4: 2-29071260-C-T
MyVariant Identifiers: chr2:g.29294126C>T (hg19) chr2:g.29071260C>T (hg38)
PubMed: PMID:21412943 PMID:23891399 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071260C>T , CM000664.2:g.29071260C>T GRCh38
NC_000002.11:g.29294126C>T , CM000664.1:g.29294126C>T GRCh37
NC_000002.10:g.29147630C>T NCBI36
NG_021427.1:g.8002G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3002G>A MANE Select ENSP00000332809.4:p.Trp1001Ter
ENST00000331664.5:c.3002G>A ENSP00000332809.4:p.Trp1001Ter
NM_001029883.2:c.3002G>A NP_001025054.1:p.Trp1001Ter
XM_011532826.1:c.3002G>A XP_011531128.1:p.Trp1001Ter
XR_939901.1:n.185+2093C>T
XR_939902.1:n.173+2105C>T
NM_001029883.3:c.3002G>A MANE Select NP_001025054.1:p.Trp1001Ter
Search 100 bp 5'
Search 100 bp 3'