Canonical Allele Identifier: CA425437986
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1565103
ClinVar RCV Id: RCV002205143
dbSNP Id: rs1429067122
gnomAD v2: 2-29293537-G-A
gnomAD v3: 2-29070671-G-A
gnomAD v4: 2-29070671-G-A
COSMIC: COSM2941300
MyVariant Identifiers: chr2:g.29293537G>A (hg19) chr2:g.29070671G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070671G>A , CM000664.2:g.29070671G>A GRCh38
NC_000002.11:g.29293537G>A , CM000664.1:g.29293537G>A GRCh37
NC_000002.10:g.29147041G>A NCBI36
NG_021427.1:g.8591C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3591C>T MANE Select ENSP00000332809.4:p.Arg1197=
ENST00000331664.5:c.3591C>T ENSP00000332809.4:p.Arg1197=
NM_001029883.2:c.3591C>T NP_001025054.1:p.Arg1197=
XM_011532826.1:c.3591C>T XP_011531128.1:p.Arg1197=
XR_939901.1:n.185+1504G>A
XR_939902.1:n.173+1516G>A
NM_001029883.3:c.3591C>T MANE Select NP_001025054.1:p.Arg1197=
Search 100 bp 5'
Search 100 bp 3'