Canonical Allele Identifier: CA346474866
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29293661A>T (hg19) chr2:g.29070795A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070795A>T , CM000664.2:g.29070795A>T GRCh38
NC_000002.11:g.29293661A>T , CM000664.1:g.29293661A>T GRCh37
NC_000002.10:g.29147165A>T NCBI36
NG_021427.1:g.8467T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3467T>A MANE Select ENSP00000332809.4:p.Leu1156His
ENST00000331664.5:c.3467T>A ENSP00000332809.4:p.Leu1156His
NM_001029883.2:c.3467T>A NP_001025054.1:p.Leu1156His
XM_011532826.1:c.3467T>A XP_011531128.1:p.Leu1156His
XR_939901.1:n.185+1628A>T
XR_939902.1:n.173+1640A>T
NM_001029883.3:c.3467T>A MANE Select NP_001025054.1:p.Leu1156His
Search 100 bp 5'
Search 100 bp 3'