Canonical Allele Identifier: CA1592484
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1022889
ClinVar RCV Id: RCV001322856
dbSNP Id: rs765379745
ExAC: 2:29295968 T / G
gnomAD v2: 2-29295968-T-G
gnomAD v4: 2-29073102-T-G
MyVariant Identifiers: chr2:g.29295968T>G (hg19) chr2:g.29073102T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073102T>G , CM000664.2:g.29073102T>G GRCh38
NC_000002.11:g.29295968T>G , CM000664.1:g.29295968T>G GRCh37
NC_000002.10:g.29149472T>G NCBI36
NG_021427.1:g.6160A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1160A>C MANE Select ENSP00000332809.4:p.His387Pro
ENST00000331664.5:c.1160A>C ENSP00000332809.4:p.His387Pro
NM_001029883.2:c.1160A>C NP_001025054.1:p.His387Pro
XM_011532826.1:c.1160A>C XP_011531128.1:p.His387Pro
XR_939901.1:n.185+3935T>G
XR_939902.1:n.173+3947T>G
NM_001029883.3:c.1160A>C MANE Select NP_001025054.1:p.His387Pro
Search 100 bp 5'
Search 100 bp 3'