Canonical Allele Identifier: CA1591899
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1041194
ClinVar RCV Id: RCV001344959
dbSNP Id: rs370727666
ExAC: 2:29293587 G / C
gnomAD v2: 2-29293587-G-C
gnomAD v3: 2-29070721-G-C
gnomAD v4: 2-29070721-G-C
MyVariant Identifiers: chr2:g.29293587G>C (hg19) chr2:g.29070721G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070721G>C , CM000664.2:g.29070721G>C GRCh38
NC_000002.11:g.29293587G>C , CM000664.1:g.29293587G>C GRCh37
NC_000002.10:g.29147091G>C NCBI36
NG_021427.1:g.8541C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3541C>G MANE Select ENSP00000332809.4:p.Leu1181Val
ENST00000331664.5:c.3541C>G ENSP00000332809.4:p.Leu1181Val
NM_001029883.2:c.3541C>G NP_001025054.1:p.Leu1181Val
XM_011532826.1:c.3541C>G XP_011531128.1:p.Leu1181Val
XR_939901.1:n.185+1554G>C
XR_939902.1:n.173+1566G>C
NM_001029883.3:c.3541C>G MANE Select NP_001025054.1:p.Leu1181Val
Search 100 bp 5'
Search 100 bp 3'