Canonical Allele Identifier: CA1592435
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1041197
ClinVar RCV Id: RCV001344962
dbSNP Id: rs372820770
ExAC: 2:29295743 C / T
gnomAD v2: 2-29295743-C-T
gnomAD v3: 2-29072877-C-T
gnomAD v4: 2-29072877-C-T
MyVariant Identifiers: chr2:g.29295743C>T (hg19) chr2:g.29072877C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072877C>T , CM000664.2:g.29072877C>T GRCh38
NC_000002.11:g.29295743C>T , CM000664.1:g.29295743C>T GRCh37
NC_000002.10:g.29149247C>T NCBI36
NG_021427.1:g.6385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1385G>A MANE Select ENSP00000332809.4:p.Gly462Glu
ENST00000331664.5:c.1385G>A ENSP00000332809.4:p.Gly462Glu
NM_001029883.2:c.1385G>A NP_001025054.1:p.Gly462Glu
XM_011532826.1:c.1385G>A XP_011531128.1:p.Gly462Glu
XR_939901.1:n.185+3710C>T
XR_939902.1:n.173+3722C>T
NM_001029883.3:c.1385G>A MANE Select NP_001025054.1:p.Gly462Glu
Search 100 bp 5'
Search 100 bp 3'