Canonical Allele Identifier: CA346481776
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 2090433
ClinVar RCV Id: RCV003005853
MyVariant Identifiers: chr2:g.29296449C>A (hg19) chr2:g.29073583C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073583C>A , CM000664.2:g.29073583C>A GRCh38
NC_000002.11:g.29296449C>A , CM000664.1:g.29296449C>A GRCh37
NC_000002.10:g.29149953C>A NCBI36
NG_021427.1:g.5679G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.679G>T MANE Select ENSP00000332809.4:p.Glu227Ter
ENST00000331664.5:c.679G>T ENSP00000332809.4:p.Glu227Ter
NM_001029883.2:c.679G>T NP_001025054.1:p.Glu227Ter
XM_011532826.1:c.679G>T XP_011531128.1:p.Glu227Ter
XR_939901.1:n.185+4416C>A
XR_939902.1:n.173+4428C>A
NM_001029883.3:c.679G>T MANE Select NP_001025054.1:p.Glu227Ter
Search 100 bp 5'
Search 100 bp 3'