Canonical Allele Identifier: CA1592030
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1924305
ClinVar RCV Id: RCV002609530
dbSNP Id: rs759748384
ExAC: 2:29294044 C / T
gnomAD v2: 2-29294044-C-T
gnomAD v4: 2-29071178-C-T
COSMIC: COSM3962761
MyVariant Identifiers: chr2:g.29294044C>T (hg19) chr2:g.29071178C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071178C>T , CM000664.2:g.29071178C>T GRCh38
NC_000002.11:g.29294044C>T , CM000664.1:g.29294044C>T GRCh37
NC_000002.10:g.29147548C>T NCBI36
NG_021427.1:g.8084G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3084G>A MANE Select ENSP00000332809.4:p.Thr1028=
ENST00000331664.5:c.3084G>A ENSP00000332809.4:p.Thr1028=
NM_001029883.2:c.3084G>A NP_001025054.1:p.Thr1028=
XM_011532826.1:c.3084G>A XP_011531128.1:p.Thr1028=
XR_939901.1:n.185+2011C>T
XR_939902.1:n.173+2023C>T
NM_001029883.3:c.3084G>A MANE Select NP_001025054.1:p.Thr1028=
Search 100 bp 5'
Search 100 bp 3'