Canonical Allele Identifier: CA1592449
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 837115
ClinVar RCV Id: RCV001038384
dbSNP Id: rs371031419
ExAC: 2:29295812 C / T
gnomAD v2: 2-29295812-C-T
gnomAD v3: 2-29072946-C-T
gnomAD v4: 2-29072946-C-T
MyVariant Identifiers: chr2:g.29295812C>T (hg19) chr2:g.29072946C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072946C>T , CM000664.2:g.29072946C>T GRCh38
NC_000002.11:g.29295812C>T , CM000664.1:g.29295812C>T GRCh37
NC_000002.10:g.29149316C>T NCBI36
NG_021427.1:g.6316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1316G>A MANE Select ENSP00000332809.4:p.Ser439Asn
ENST00000331664.5:c.1316G>A ENSP00000332809.4:p.Ser439Asn
NM_001029883.2:c.1316G>A NP_001025054.1:p.Ser439Asn
XM_011532826.1:c.1316G>A XP_011531128.1:p.Ser439Asn
XR_939901.1:n.185+3779C>T
XR_939902.1:n.173+3791C>T
NM_001029883.3:c.1316G>A MANE Select NP_001025054.1:p.Ser439Asn
Search 100 bp 5'
Search 100 bp 3'