Canonical Allele Identifier: CA1591923
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1520787
ClinVar RCV Id: RCV002027713 RCV003889009
dbSNP Id: rs755486918
ExAC: 2:29293659 C / T
gnomAD v2: 2-29293659-C-T
gnomAD v3: 2-29070793-C-T
gnomAD v4: 2-29070793-C-T
COSMIC: COSM216583
MyVariant Identifiers: chr2:g.29293659C>T (hg19) chr2:g.29070793C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070793C>T , CM000664.2:g.29070793C>T GRCh38
NC_000002.11:g.29293659C>T , CM000664.1:g.29293659C>T GRCh37
NC_000002.10:g.29147163C>T NCBI36
NG_021427.1:g.8469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3469G>A MANE Select ENSP00000332809.4:p.Gly1157Arg
ENST00000331664.5:c.3469G>A ENSP00000332809.4:p.Gly1157Arg
NM_001029883.2:c.3469G>A NP_001025054.1:p.Gly1157Arg
XM_011532826.1:c.3469G>A XP_011531128.1:p.Gly1157Arg
XR_939901.1:n.185+1626C>T
XR_939902.1:n.173+1638C>T
NM_001029883.3:c.3469G>A MANE Select NP_001025054.1:p.Gly1157Arg
Search 100 bp 5'
Search 100 bp 3'