Canonical Allele Identifier: CA425616468
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 2017886
ClinVar RCV Id: RCV002870673
gnomAD v4: 2-29070845-T-C
MyVariant Identifiers: chr2:g.29293711T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070845T>C , CM000664.2:g.29070845T>C GRCh38
NC_000002.11:g.29293711T>C , CM000664.1:g.29293711T>C GRCh37
NC_000002.10:g.29147215T>C NCBI36
NG_021427.1:g.8417A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3417A>G MANE Select ENSP00000332809.4:p.Thr1139=
ENST00000331664.5:c.3417A>G ENSP00000332809.4:p.Thr1139=
NM_001029883.2:c.3417A>G NP_001025054.1:p.Thr1139=
XM_011532826.1:c.3417A>G XP_011531128.1:p.Thr1139=
XR_939901.1:n.185+1678T>C
XR_939902.1:n.173+1690T>C
NM_001029883.3:c.3417A>G MANE Select NP_001025054.1:p.Thr1139=
Search 100 bp 5'
Search 100 bp 3'