Canonical Allele Identifier: CA425616856
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1651798
ClinVar RCV Id: RCV002154173
dbSNP Id: rs1667472015
gnomAD v4: 2-29071190-A-G
MyVariant Identifiers: chr2:g.29294056A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071190A>G , CM000664.2:g.29071190A>G GRCh38
NC_000002.11:g.29294056A>G , CM000664.1:g.29294056A>G GRCh37
NC_000002.10:g.29147560A>G NCBI36
NG_021427.1:g.8072T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3072T>C MANE Select ENSP00000332809.4:p.Ser1024=
ENST00000331664.5:c.3072T>C ENSP00000332809.4:p.Ser1024=
NM_001029883.2:c.3072T>C NP_001025054.1:p.Ser1024=
XM_011532826.1:c.3072T>C XP_011531128.1:p.Ser1024=
XR_939901.1:n.185+2023A>G
XR_939902.1:n.173+2035A>G
NM_001029883.3:c.3072T>C MANE Select NP_001025054.1:p.Ser1024=
Search 100 bp 5'
Search 100 bp 3'