Canonical Allele Identifier: CA1592485
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1352317
ClinVar RCV Id: RCV002047512
dbSNP Id: rs773124245
ExAC: 2:29295969 G / C
gnomAD v2: 2-29295969-G-C
gnomAD v3: 2-29073103-G-C
gnomAD v4: 2-29073103-G-C
MyVariant Identifiers: chr2:g.29295969G>C (hg19) chr2:g.29073103G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073103G>C , CM000664.2:g.29073103G>C GRCh38
NC_000002.11:g.29295969G>C , CM000664.1:g.29295969G>C GRCh37
NC_000002.10:g.29149473G>C NCBI36
NG_021427.1:g.6159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1159C>G MANE Select ENSP00000332809.4:p.His387Asp
ENST00000331664.5:c.1159C>G ENSP00000332809.4:p.His387Asp
NM_001029883.2:c.1159C>G NP_001025054.1:p.His387Asp
XM_011532826.1:c.1159C>G XP_011531128.1:p.His387Asp
XR_939901.1:n.185+3936G>C
XR_939902.1:n.173+3948G>C
NM_001029883.3:c.1159C>G MANE Select NP_001025054.1:p.His387Asp
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