Canonical Allele Identifier: CA531766655
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 632360
ClinVar RCV Id: RCV001873182
dbSNP Id: rs1558488002
gnomAD v2: 2-29294037-T-TG
gnomAD v4: 2-29071171-T-TG
MyVariant Identifiers: chr2:g.29294037_29294038insG (hg19) chr2:g.29071171_29071172insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071177dup , CM000664.2:g.29071177dup GRCh38
NC_000002.11:g.29294043dup , CM000664.1:g.29294043dup GRCh37
NC_000002.10:g.29147547dup NCBI36
NG_021427.1:g.8090dup

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3090dup MANE Select ENSP00000332809.4:p.Ser1031GlnfsTer?
ENST00000331664.5:c.3090dup ENSP00000332809.4:p.Ser1031GlnfsTer?
NM_001029883.2:c.3090dup NP_001025054.1:p.Ser1031GlnfsTer?
XM_011532826.1:c.3090dup XP_011531128.1:p.Ser1031GlnfsTer?
XR_939901.1:n.185+2010dup
XR_939902.1:n.173+2022dup
NM_001029883.3:c.3090dup MANE Select NP_001025054.1:p.Ser1031GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'