Canonical Allele Identifier: CA346476045
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29294151T>G (hg19) chr2:g.29071285T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071285T>G , CM000664.2:g.29071285T>G GRCh38
NC_000002.11:g.29294151T>G , CM000664.1:g.29294151T>G GRCh37
NC_000002.10:g.29147655T>G NCBI36
NG_021427.1:g.7977A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2977A>C MANE Select ENSP00000332809.4:p.Lys993Gln
ENST00000331664.5:c.2977A>C ENSP00000332809.4:p.Lys993Gln
NM_001029883.2:c.2977A>C NP_001025054.1:p.Lys993Gln
XM_011532826.1:c.2977A>C XP_011531128.1:p.Lys993Gln
XR_939901.1:n.185+2118T>G
XR_939902.1:n.173+2130T>G
NM_001029883.3:c.2977A>C MANE Select NP_001025054.1:p.Lys993Gln
Search 100 bp 5'
Search 100 bp 3'