Canonical Allele Identifier: CA346476043
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29294150T>C (hg19) chr2:g.29071284T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071284T>C , CM000664.2:g.29071284T>C GRCh38
NC_000002.11:g.29294150T>C , CM000664.1:g.29294150T>C GRCh37
NC_000002.10:g.29147654T>C NCBI36
NG_021427.1:g.7978A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.2978A>G MANE Select ENSP00000332809.4:p.Lys993Arg
ENST00000331664.5:c.2978A>G ENSP00000332809.4:p.Lys993Arg
NM_001029883.2:c.2978A>G NP_001025054.1:p.Lys993Arg
XM_011532826.1:c.2978A>G XP_011531128.1:p.Lys993Arg
XR_939901.1:n.185+2117T>C
XR_939902.1:n.173+2129T>C
NM_001029883.3:c.2978A>G MANE Select NP_001025054.1:p.Lys993Arg
Search 100 bp 5'
Search 100 bp 3'