Canonical Allele Identifier: CA1591904
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1040109
ClinVar RCV Id: RCV001343693 RCV003888043
dbSNP Id: rs375826049
ExAC: 2:29293598 C / T
gnomAD v2: 2-29293598-C-T
gnomAD v3: 2-29070732-C-T
gnomAD v4: 2-29070732-C-T
MyVariant Identifiers: chr2:g.29293598C>T (hg19) chr2:g.29070732C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070732C>T , CM000664.2:g.29070732C>T GRCh38
NC_000002.11:g.29293598C>T , CM000664.1:g.29293598C>T GRCh37
NC_000002.10:g.29147102C>T NCBI36
NG_021427.1:g.8530G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3530G>A MANE Select ENSP00000332809.4:p.Arg1177Gln
ENST00000331664.5:c.3530G>A ENSP00000332809.4:p.Arg1177Gln
NM_001029883.2:c.3530G>A NP_001025054.1:p.Arg1177Gln
XM_011532826.1:c.3530G>A XP_011531128.1:p.Arg1177Gln
XR_939901.1:n.185+1565C>T
XR_939902.1:n.173+1577C>T
NM_001029883.3:c.3530G>A MANE Select NP_001025054.1:p.Arg1177Gln
Search 100 bp 5'
Search 100 bp 3'