Canonical Allele Identifier: CA346481778
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29296450A>T (hg19) chr2:g.29073584A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073584A>T , CM000664.2:g.29073584A>T GRCh38
NC_000002.11:g.29296450A>T , CM000664.1:g.29296450A>T GRCh37
NC_000002.10:g.29149954A>T NCBI36
NG_021427.1:g.5678T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.678T>A MANE Select ENSP00000332809.4:p.Phe226Leu
ENST00000331664.5:c.678T>A ENSP00000332809.4:p.Phe226Leu
NM_001029883.2:c.678T>A NP_001025054.1:p.Phe226Leu
XM_011532826.1:c.678T>A XP_011531128.1:p.Phe226Leu
XR_939901.1:n.185+4417A>T
XR_939902.1:n.173+4429A>T
NM_001029883.3:c.678T>A MANE Select NP_001025054.1:p.Phe226Leu
Search 100 bp 5'
Search 100 bp 3'