Canonical Allele Identifier: CA44638613
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs769465560
gnomAD v4: 2-29070716-A-C
MyVariant Identifiers: chr2:g.29293582A>C (hg19) chr2:g.29070716A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070716A>C , CM000664.2:g.29070716A>C GRCh38
NC_000002.11:g.29293582A>C , CM000664.1:g.29293582A>C GRCh37
NC_000002.10:g.29147086A>C NCBI36
NG_021427.1:g.8546T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3546T>G MANE Select ENSP00000332809.4:p.Cys1182Trp
ENST00000331664.5:c.3546T>G ENSP00000332809.4:p.Cys1182Trp
NM_001029883.2:c.3546T>G NP_001025054.1:p.Cys1182Trp
XM_011532826.1:c.3546T>G XP_011531128.1:p.Cys1182Trp
XR_939901.1:n.185+1549A>C
XR_939902.1:n.173+1561A>C
NM_001029883.3:c.3546T>G MANE Select NP_001025054.1:p.Cys1182Trp
Search 100 bp 5'
Search 100 bp 3'