Canonical Allele Identifier: CA346475506
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1959761
ClinVar RCV Id: RCV002701449
MyVariant Identifiers: chr2:g.29293878A>G (hg19) chr2:g.29071012A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071012A>G , CM000664.2:g.29071012A>G GRCh38
NC_000002.11:g.29293878A>G , CM000664.1:g.29293878A>G GRCh37
NC_000002.10:g.29147382A>G NCBI36
NG_021427.1:g.8250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3250T>C MANE Select ENSP00000332809.4:p.Phe1084Leu
ENST00000331664.5:c.3250T>C ENSP00000332809.4:p.Phe1084Leu
NM_001029883.2:c.3250T>C NP_001025054.1:p.Phe1084Leu
XM_011532826.1:c.3250T>C XP_011531128.1:p.Phe1084Leu
XR_939901.1:n.185+1845A>G
XR_939902.1:n.173+1857A>G
NM_001029883.3:c.3250T>C MANE Select NP_001025054.1:p.Phe1084Leu
Search 100 bp 5'
Search 100 bp 3'