Canonical Allele Identifier: CA1591885
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 898962
ClinVar RCV Id: RCV001143155 RCV001343150
dbSNP Id: rs200071634
ExAC: 2:29293523 C / T
gnomAD v2: 2-29293523-C-T
gnomAD v3: 2-29070657-C-T
gnomAD v4: 2-29070657-C-T
COSMIC: COSM1019978
MyVariant Identifiers: chr2:g.29293523C>T (hg19) chr2:g.29070657C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070657C>T , CM000664.2:g.29070657C>T GRCh38
NC_000002.11:g.29293523C>T , CM000664.1:g.29293523C>T GRCh37
NC_000002.10:g.29147027C>T NCBI36
NG_021427.1:g.8605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3605G>A MANE Select ENSP00000332809.4:p.Arg1202Gln
ENST00000331664.5:c.3605G>A ENSP00000332809.4:p.Arg1202Gln
NM_001029883.2:c.3605G>A NP_001025054.1:p.Arg1202Gln
XM_011532826.1:c.3605G>A XP_011531128.1:p.Arg1202Gln
XR_939901.1:n.185+1490C>T
XR_939902.1:n.173+1502C>T
NM_001029883.3:c.3605G>A MANE Select NP_001025054.1:p.Arg1202Gln
Search 100 bp 5'
Search 100 bp 3'