Canonical Allele Identifier: CA10613589
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 335621
ClinVar RCV Id: RCV000342919
dbSNP Id: rs13016696
gnomAD v2: 2-29286905-G-T
gnomAD v3: 2-29064039-G-T
gnomAD v4: 2-29064039-G-T
MyVariant Identifiers: chr2:g.29286905G>T (hg19) chr2:g.29064039G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29064039G>T , CM000664.2:g.29064039G>T GRCh38
NC_000002.11:g.29286905G>T , CM000664.1:g.29286905G>T GRCh37
NC_000002.10:g.29140409G>T NCBI36
NG_021427.1:g.15223C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.*830C>A MANE Select ENSP00000332809.4:n.*830C>A
ENST00000331664.5:c.4697C>A ENSP00000332809.4:n.4697C>A
NM_001029883.2:c.4697C>A NP_001025054.1:n.4697C>A
XM_011532826.1:c.*131-625C>A XP_011531128.1:n.*131-625C>A
XR_939901.1:n.69+144G>T
XR_939902.1:n.69+144G>T
NM_001029883.3:c.*830C>A MANE Select NP_001025054.1:n.*830C>A
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