Canonical Allele Identifier: CA425616738
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 2990025
ClinVar RCV Id: RCV003844720
dbSNP Id: rs1166299480
gnomAD v2: 2-29294158-C-T
gnomAD v3: 2-29071292-C-T
gnomAD v4: 2-29071292-C-T
MyVariant Identifiers: chr2:g.29294158C>T (hg19) chr2:g.29071292C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071292C>T , CM000664.2:g.29071292C>T GRCh38
NC_000002.11:g.29294158C>T , CM000664.1:g.29294158C>T GRCh37
NC_000002.10:g.29147662C>T NCBI36
NG_021427.1:g.7970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.2970G>A MANE Select ENSP00000332809.4:p.Val990=
ENST00000331664.5:c.2970G>A ENSP00000332809.4:p.Val990=
NM_001029883.2:c.2970G>A NP_001025054.1:p.Val990=
XM_011532826.1:c.2970G>A XP_011531128.1:p.Val990=
XR_939901.1:n.185+2125C>T
XR_939902.1:n.173+2137C>T
NM_001029883.3:c.2970G>A MANE Select NP_001025054.1:p.Val990=
Search 100 bp 5'
Search 100 bp 3'