Canonical Allele Identifier: CA346472926
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1970021
ClinVar RCV Id: RCV002730328
dbSNP Id: rs1667458349
gnomAD v3: 2-29070712-G-C
gnomAD v4: 2-29070712-G-C
MyVariant Identifiers: chr2:g.29293578G>C (hg19) chr2:g.29070712G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070712G>C , CM000664.2:g.29070712G>C GRCh38
NC_000002.11:g.29293578G>C , CM000664.1:g.29293578G>C GRCh37
NC_000002.10:g.29147082G>C NCBI36
NG_021427.1:g.8550C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3550C>G MANE Select ENSP00000332809.4:p.Leu1184Val
ENST00000331664.5:c.3550C>G ENSP00000332809.4:p.Leu1184Val
NM_001029883.2:c.3550C>G NP_001025054.1:p.Leu1184Val
XM_011532826.1:c.3550C>G XP_011531128.1:p.Leu1184Val
XR_939901.1:n.185+1545G>C
XR_939902.1:n.173+1557G>C
NM_001029883.3:c.3550C>G MANE Select NP_001025054.1:p.Leu1184Val
Search 100 bp 5'
Search 100 bp 3'