Canonical Allele Identifier: CA425438022
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29293585C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070719C>T , CM000664.2:g.29070719C>T GRCh38
NC_000002.11:g.29293585C>T , CM000664.1:g.29293585C>T GRCh37
NC_000002.10:g.29147089C>T NCBI36
NG_021427.1:g.8543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3543G>A MANE Select ENSP00000332809.4:p.Leu1181=
ENST00000331664.5:c.3543G>A ENSP00000332809.4:p.Leu1181=
NM_001029883.2:c.3543G>A NP_001025054.1:p.Leu1181=
XM_011532826.1:c.3543G>A XP_011531128.1:p.Leu1181=
XR_939901.1:n.185+1552C>T
XR_939902.1:n.173+1564C>T
NM_001029883.3:c.3543G>A MANE Select NP_001025054.1:p.Leu1181=