Canonical Allele Identifier: CA346480875
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 2015098
ClinVar RCV Id: RCV002839283
gnomAD v4: 2-29073151-A-G
MyVariant Identifiers: chr2:g.29296017A>G (hg19) chr2:g.29073151A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073151A>G , CM000664.2:g.29073151A>G GRCh38
NC_000002.11:g.29296017A>G , CM000664.1:g.29296017A>G GRCh37
NC_000002.10:g.29149521A>G NCBI36
NG_021427.1:g.6111T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1111T>C MANE Select ENSP00000332809.4:p.Trp371Arg
ENST00000331664.5:c.1111T>C ENSP00000332809.4:p.Trp371Arg
NM_001029883.2:c.1111T>C NP_001025054.1:p.Trp371Arg
XM_011532826.1:c.1111T>C XP_011531128.1:p.Trp371Arg
XR_939901.1:n.185+3984A>G
XR_939902.1:n.173+3996A>G
NM_001029883.3:c.1111T>C MANE Select NP_001025054.1:p.Trp371Arg
Search 100 bp 5'
Search 100 bp 3'