Canonical Allele Identifier: CA346480413
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1523718
ClinVar RCV Id: RCV002039089
dbSNP Id: rs750826772
MyVariant Identifiers: chr2:g.29295797G>T (hg19) chr2:g.29072931G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072931G>T , CM000664.2:g.29072931G>T GRCh38
NC_000002.11:g.29295797G>T , CM000664.1:g.29295797G>T GRCh37
NC_000002.10:g.29149301G>T NCBI36
NG_021427.1:g.6331C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1331C>A MANE Select ENSP00000332809.4:p.Thr444Asn
ENST00000331664.5:c.1331C>A ENSP00000332809.4:p.Thr444Asn
NM_001029883.2:c.1331C>A NP_001025054.1:p.Thr444Asn
XM_011532826.1:c.1331C>A XP_011531128.1:p.Thr444Asn
XR_939901.1:n.185+3764G>T
XR_939902.1:n.173+3776G>T
NM_001029883.3:c.1331C>A MANE Select NP_001025054.1:p.Thr444Asn
Search 100 bp 5'
Search 100 bp 3'