Canonical Allele Identifier: CA346480354
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1014290
ClinVar RCV Id: RCV001313002
dbSNP Id: rs1572828853
MyVariant Identifiers: chr2:g.29295768T>G (hg19) chr2:g.29072902T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072902T>G , CM000664.2:g.29072902T>G GRCh38
NC_000002.11:g.29295768T>G , CM000664.1:g.29295768T>G GRCh37
NC_000002.10:g.29149272T>G NCBI36
NG_021427.1:g.6360A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1360A>C MANE Select ENSP00000332809.4:p.Thr454Pro
ENST00000331664.5:c.1360A>C ENSP00000332809.4:p.Thr454Pro
NM_001029883.2:c.1360A>C NP_001025054.1:p.Thr454Pro
XM_011532826.1:c.1360A>C XP_011531128.1:p.Thr454Pro
XR_939901.1:n.185+3735T>G
XR_939902.1:n.173+3747T>G
NM_001029883.3:c.1360A>C MANE Select NP_001025054.1:p.Thr454Pro
Search 100 bp 5'
Search 100 bp 3'