Canonical Allele Identifier: CA425438000
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 2084871
ClinVar RCV Id: RCV003011359
dbSNP Id: rs1572825580
gnomAD v4: 2-29070689-C-T
MyVariant Identifiers: chr2:g.29293555C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070689C>T , CM000664.2:g.29070689C>T GRCh38
NC_000002.11:g.29293555C>T , CM000664.1:g.29293555C>T GRCh37
NC_000002.10:g.29147059C>T NCBI36
NG_021427.1:g.8573G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3573G>A MANE Select ENSP00000332809.4:p.Arg1191=
ENST00000331664.5:c.3573G>A ENSP00000332809.4:p.Arg1191=
NM_001029883.2:c.3573G>A NP_001025054.1:p.Arg1191=
XM_011532826.1:c.3573G>A XP_011531128.1:p.Arg1191=
XR_939901.1:n.185+1522C>T
XR_939902.1:n.173+1534C>T
NM_001029883.3:c.3573G>A MANE Select NP_001025054.1:p.Arg1191=
Search 100 bp 5'
Search 100 bp 3'