Canonical Allele Identifier: CA1591878
Gene: PCARE HGNC NCBI

Linked Data

ClinVar Variation Id: 898961
ClinVar RCV Id: RCV001143154 RCV001314175
dbSNP Id: rs372010073
ExAC: 2:29293508 G / T
gnomAD v2: 2-29293508-G-T
gnomAD v3: 2-29070642-G-T
gnomAD v4: 2-29070642-G-T
MyVariant Identifiers: chr2:g.29293508G>T (hg19) chr2:g.29070642G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070642G>T , CM000664.2:g.29070642G>T GRCh38
NC_000002.11:g.29293508G>T , CM000664.1:g.29293508G>T GRCh37
NC_000002.10:g.29147012G>T NCBI36
NG_021427.1:g.8620C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3620C>A MANE Select ENSP00000332809.4:p.Thr1207Asn
ENST00000331664.5:c.3620C>A ENSP00000332809.4:p.Thr1207Asn
NM_001029883.2:c.3620C>A NP_001025054.1:p.Thr1207Asn
XM_011532826.1:c.3620C>A XP_011531128.1:p.Thr1207Asn
XR_939901.1:n.185+1475G>T
XR_939902.1:n.173+1487G>T
NM_001029883.3:c.3620C>A MANE Select NP_001025054.1:p.Thr1207Asn
Search 100 bp 5'
Search 100 bp 3'