Canonical Allele Identifier: CA425438013
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1969267
ClinVar RCV Id: RCV002717110
dbSNP Id: rs929133037
MyVariant Identifiers: chr2:g.29293570A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070704A>C , CM000664.2:g.29070704A>C GRCh38
NC_000002.11:g.29293570A>C , CM000664.1:g.29293570A>C GRCh37
NC_000002.10:g.29147074A>C NCBI36
NG_021427.1:g.8558T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3558T>G MANE Select ENSP00000332809.4:p.Pro1186=
ENST00000331664.5:c.3558T>G ENSP00000332809.4:p.Pro1186=
NM_001029883.2:c.3558T>G NP_001025054.1:p.Pro1186=
XM_011532826.1:c.3558T>G XP_011531128.1:p.Pro1186=
XR_939901.1:n.185+1537A>C
XR_939902.1:n.173+1549A>C
NM_001029883.3:c.3558T>G MANE Select NP_001025054.1:p.Pro1186=
Search 100 bp 5'
Search 100 bp 3'