Canonical Allele Identifier: CA1591892
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 841917
ClinVar RCV Id: RCV001044234
dbSNP Id: rs372953965
ExAC: 2:29293547 G / A
gnomAD v2: 2-29293547-G-A
gnomAD v3: 2-29070681-G-A
gnomAD v4: 2-29070681-G-A
MyVariant Identifiers: chr2:g.29293547G>A (hg19) chr2:g.29070681G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070681G>A , CM000664.2:g.29070681G>A GRCh38
NC_000002.11:g.29293547G>A , CM000664.1:g.29293547G>A GRCh37
NC_000002.10:g.29147051G>A NCBI36
NG_021427.1:g.8581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3581C>T MANE Select ENSP00000332809.4:p.Ala1194Val
ENST00000331664.5:c.3581C>T ENSP00000332809.4:p.Ala1194Val
NM_001029883.2:c.3581C>T NP_001025054.1:p.Ala1194Val
XM_011532826.1:c.3581C>T XP_011531128.1:p.Ala1194Val
XR_939901.1:n.185+1514G>A
XR_939902.1:n.173+1526G>A
NM_001029883.3:c.3581C>T MANE Select NP_001025054.1:p.Ala1194Val
Search 100 bp 5'
Search 100 bp 3'