Canonical Allele Identifier: CA1592437
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 1433905
ClinVar RCV Id: RCV001946200
dbSNP Id: rs768329444
ExAC: 2:29295748 C / A
gnomAD v2: 2-29295748-C-A
gnomAD v4: 2-29072882-C-A
MyVariant Identifiers: chr2:g.29295748C>A (hg19) chr2:g.29072882C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072882C>A , CM000664.2:g.29072882C>A GRCh38
NC_000002.11:g.29295748C>A , CM000664.1:g.29295748C>A GRCh37
NC_000002.10:g.29149252C>A NCBI36
NG_021427.1:g.6380G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1380G>T MANE Select ENSP00000332809.4:p.Gly460=
ENST00000331664.5:c.1380G>T ENSP00000332809.4:p.Gly460=
NM_001029883.2:c.1380G>T NP_001025054.1:p.Gly460=
XM_011532826.1:c.1380G>T XP_011531128.1:p.Gly460=
XR_939901.1:n.185+3715C>A
XR_939902.1:n.173+3727C>A
NM_001029883.3:c.1380G>T MANE Select NP_001025054.1:p.Gly460=
Search 100 bp 5'
Search 100 bp 3'