Canonical Allele Identifier: CA238644
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 193138
ClinVar RCV Id: RCV000173184
dbSNP Id: rs372323929
ExAC: 2:29296461 G / C
gnomAD v2: 2-29296461-G-C
gnomAD v3: 2-29073595-G-C
gnomAD v4: 2-29073595-G-C
MyVariant Identifiers: chr2:g.29296461G>C (hg19) chr2:g.29073595G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073595G>C , CM000664.2:g.29073595G>C GRCh38
NC_000002.11:g.29296461G>C , CM000664.1:g.29296461G>C GRCh37
NC_000002.10:g.29149965G>C NCBI36
NG_021427.1:g.5667C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.667C>G MANE Select ENSP00000332809.4:p.Leu223Val
ENST00000331664.5:c.667C>G ENSP00000332809.4:p.Leu223Val
NM_001029883.2:c.667C>G NP_001025054.1:p.Leu223Val
XM_011532826.1:c.667C>G XP_011531128.1:p.Leu223Val
XR_939901.1:n.185+4428G>C
XR_939902.1:n.173+4440G>C
NM_001029883.3:c.667C>G MANE Select NP_001025054.1:p.Leu223Val
Search 100 bp 5'
Search 100 bp 3'