Canonical Allele Identifier: CA1592048
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1050932
ClinVar RCV Id: RCV001358904
dbSNP Id: rs200394246
ExAC: 2:29294102 C / T
gnomAD v2: 2-29294102-C-T
gnomAD v3: 2-29071236-C-T
gnomAD v4: 2-29071236-C-T
MyVariant Identifiers: chr2:g.29294102C>T (hg19) chr2:g.29071236C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071236C>T , CM000664.2:g.29071236C>T GRCh38
NC_000002.11:g.29294102C>T , CM000664.1:g.29294102C>T GRCh37
NC_000002.10:g.29147606C>T NCBI36
NG_021427.1:g.8026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3026G>A MANE Select ENSP00000332809.4:p.Arg1009His
ENST00000331664.5:c.3026G>A ENSP00000332809.4:p.Arg1009His
NM_001029883.2:c.3026G>A NP_001025054.1:p.Arg1009His
XM_011532826.1:c.3026G>A XP_011531128.1:p.Arg1009His
XR_939901.1:n.185+2069C>T
XR_939902.1:n.173+2081C>T
NM_001029883.3:c.3026G>A MANE Select NP_001025054.1:p.Arg1009His
Search 100 bp 5'
Search 100 bp 3'