Canonical Allele Identifier: CA346480720
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1013789
ClinVar RCV Id: RCV001312434
dbSNP Id: rs1011014294
gnomAD v4: 2-29073075-G-A
MyVariant Identifiers: chr2:g.29295941G>A (hg19) chr2:g.29073075G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073075G>A , CM000664.2:g.29073075G>A GRCh38
NC_000002.11:g.29295941G>A , CM000664.1:g.29295941G>A GRCh37
NC_000002.10:g.29149445G>A NCBI36
NG_021427.1:g.6187C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1187C>T MANE Select ENSP00000332809.4:p.Thr396Ile
ENST00000331664.5:c.1187C>T ENSP00000332809.4:p.Thr396Ile
NM_001029883.2:c.1187C>T NP_001025054.1:p.Thr396Ile
XM_011532826.1:c.1187C>T XP_011531128.1:p.Thr396Ile
XR_939901.1:n.185+3908G>A
XR_939902.1:n.173+3920G>A
NM_001029883.3:c.1187C>T MANE Select NP_001025054.1:p.Thr396Ile
Search 100 bp 5'
Search 100 bp 3'