Canonical Allele Identifier: CA1591994
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs755678896
ExAC: 2:29293942 C / G
gnomAD v2: 2-29293942-C-G
gnomAD v4: 2-29071076-C-G
MyVariant Identifiers: chr2:g.29293942C>G (hg19) chr2:g.29071076C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071076C>G , CM000664.2:g.29071076C>G GRCh38
NC_000002.11:g.29293942C>G , CM000664.1:g.29293942C>G GRCh37
NC_000002.10:g.29147446C>G NCBI36
NG_021427.1:g.8186G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3186G>C MANE Select ENSP00000332809.4:p.Glu1062Asp
ENST00000331664.5:c.3186G>C ENSP00000332809.4:p.Glu1062Asp
NM_001029883.2:c.3186G>C NP_001025054.1:p.Glu1062Asp
XM_011532826.1:c.3186G>C XP_011531128.1:p.Glu1062Asp
XR_939901.1:n.185+1909C>G
XR_939902.1:n.173+1921C>G
NM_001029883.3:c.3186G>C MANE Select NP_001025054.1:p.Glu1062Asp
Search 100 bp 5'
Search 100 bp 3'