Canonical Allele Identifier: CA346472892
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1219954049
gnomAD v2: 2-29293562-A-G
gnomAD v4: 2-29070696-A-G
MyVariant Identifiers: chr2:g.29293562A>G (hg19) chr2:g.29070696A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070696A>G , CM000664.2:g.29070696A>G GRCh38
NC_000002.11:g.29293562A>G , CM000664.1:g.29293562A>G GRCh37
NC_000002.10:g.29147066A>G NCBI36
NG_021427.1:g.8566T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3566T>C MANE Select ENSP00000332809.4:p.Phe1189Ser
ENST00000331664.5:c.3566T>C ENSP00000332809.4:p.Phe1189Ser
NM_001029883.2:c.3566T>C NP_001025054.1:p.Phe1189Ser
XM_011532826.1:c.3566T>C XP_011531128.1:p.Phe1189Ser
XR_939901.1:n.185+1529A>G
XR_939902.1:n.173+1541A>G
NM_001029883.3:c.3566T>C MANE Select NP_001025054.1:p.Phe1189Ser
Search 100 bp 5'
Search 100 bp 3'