Canonical Allele Identifier: CA346475934
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 972288
ClinVar RCV Id: RCV001248281
dbSNP Id: rs1471434946
gnomAD v2: 2-29294095-G-T
gnomAD v4: 2-29071229-G-T
MyVariant Identifiers: chr2:g.29294095G>T (hg19) chr2:g.29071229G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071229G>T , CM000664.2:g.29071229G>T GRCh38
NC_000002.11:g.29294095G>T , CM000664.1:g.29294095G>T GRCh37
NC_000002.10:g.29147599G>T NCBI36
NG_021427.1:g.8033C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3033C>A MANE Select ENSP00000332809.4:p.Ser1011Arg
ENST00000331664.5:c.3033C>A ENSP00000332809.4:p.Ser1011Arg
NM_001029883.2:c.3033C>A NP_001025054.1:p.Ser1011Arg
XM_011532826.1:c.3033C>A XP_011531128.1:p.Ser1011Arg
XR_939901.1:n.185+2062G>T
XR_939902.1:n.173+2074G>T
NM_001029883.3:c.3033C>A MANE Select NP_001025054.1:p.Ser1011Arg
Search 100 bp 5'
Search 100 bp 3'