Canonical Allele Identifier: CA233551
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 166758
ClinVar RCV Id: RCV000152888 RCV000959821 RCV001283040 RCV001141299
dbSNP Id: rs199689791
ExAC: 2:29287813 C / T
gnomAD v2: 2-29287813-C-T
gnomAD v3: 2-29064947-C-T
gnomAD v4: 2-29064947-C-T
MyVariant Identifiers: chr2:g.29287813C>T (hg19) chr2:g.29064947C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29064947C>T , CM000664.2:g.29064947C>T GRCh38
NC_000002.11:g.29287813C>T , CM000664.1:g.29287813C>T GRCh37
NC_000002.10:g.29141317C>T NCBI36
NG_021427.1:g.14315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3789G>A MANE Select ENSP00000332809.4:p.Leu1263=
ENST00000331664.5:c.3789G>A ENSP00000332809.4:p.Leu1263=
NM_001029883.2:c.3789G>A NP_001025054.1:p.Leu1263=
XM_011532826.1:c.3789G>A XP_011531128.1:p.Leu1263=
XR_939901.1:n.69+1052C>T
XR_939902.1:n.69+1052C>T
NM_001029883.3:c.3789G>A MANE Select NP_001025054.1:p.Leu1263=
Search 100 bp 5'
Search 100 bp 3'