Canonical Allele Identifier: CA200349

Gene: PCARE

Linked Data

• ClinVar Variation Id: 193139
• ClinVar RCV Id: RCV000173185 ; RCV000894308 ; RCV001138830
• dbSNP Id: rs72861054
• ExAC: 2:29293950 G / T
• gnomAD v2: 2-29293950-G-T
• gnomAD v3: 2-29071084-G-T
• gnomAD v4: 2-29071084-G-T
• MyVariant Identifiers: chr2:g.29293950G>T (hg19) ; chr2:g.29071084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071084G>T , CM000664.2:g.29071084G>T	GRCh38
NC_000002.11:g.29293950G>T , CM000664.1:g.29293950G>T	GRCh37
NC_000002.10:g.29147454G>T	NCBI36
NG_021427.1:g.8178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3178C>A MANE Select	ENSP00000332809.4:p.Pro1060Thr
ENST00000331664.5:c.3178C>A	ENSP00000332809.4:p.Pro1060Thr
NM_001029883.2:c.3178C>A	NP_001025054.1:p.Pro1060Thr
XM_011532826.1:c.3178C>A	XP_011531128.1:p.Pro1060Thr
XR_939901.1:n.185+1917G>T
XR_939902.1:n.173+1929G>T
NM_001029883.3:c.3178C>A MANE Select	NP_001025054.1:p.Pro1060Thr