Canonical Allele Identifier: CA425437994
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29293546A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070680A>G , CM000664.2:g.29070680A>G GRCh38
NC_000002.11:g.29293546A>G , CM000664.1:g.29293546A>G GRCh37
NC_000002.10:g.29147050A>G NCBI36
NG_021427.1:g.8582T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3582T>C MANE Select ENSP00000332809.4:p.Ala1194=
ENST00000331664.5:c.3582T>C ENSP00000332809.4:p.Ala1194=
NM_001029883.2:c.3582T>C NP_001025054.1:p.Ala1194=
XM_011532826.1:c.3582T>C XP_011531128.1:p.Ala1194=
XR_939901.1:n.185+1513A>G
XR_939902.1:n.173+1525A>G
NM_001029883.3:c.3582T>C MANE Select NP_001025054.1:p.Ala1194=
Search 100 bp 5'
Search 100 bp 3'