Canonical Allele Identifier: CA10613084
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 335581
ClinVar RCV Id: RCV000352443 RCV003422310
dbSNP Id: rs188247308
gnomAD v2: 2-29285173-C-G
gnomAD v3: 2-29062307-C-G
gnomAD v4: 2-29062307-C-G
MyVariant Identifiers: chr2:g.29285173C>G (hg19) chr2:g.29062307C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29062307C>G , CM000664.2:g.29062307C>G GRCh38
NC_000002.11:g.29285173C>G , CM000664.1:g.29285173C>G GRCh37
NC_000002.10:g.29138677C>G NCBI36
NG_021427.1:g.16955G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.*2562G>C MANE Select ENSP00000332809.4:n.*2562G>C
ENST00000331664.5:c.6429G>C ENSP00000332809.4:n.6429G>C
NM_001029883.2:c.6429G>C NP_001025054.1:n.6429G>C
XM_011532826.1:c.*382-652G>C XP_011531128.1:n.*382-652G>C
NM_001029883.3:c.*2562G>C MANE Select NP_001025054.1:n.*2562G>C
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