Canonical Allele Identifier: CA1592646

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335671
• ClinVar RCV Id: RCV000281807 ; RCV001467295
• dbSNP Id: rs372665350
• ExAC: 2:29296669 C / T
• gnomAD v2: 2-29296669-C-T
• gnomAD v3: 2-29073803-C-T
• gnomAD v4: 2-29073803-C-T
• MyVariant Identifiers: chr2:g.29296669C>T (hg19) ; chr2:g.29296669_29296670delinsTG (hg19) ; chr2:g.29073803C>T (hg38) ; chr2:g.29073803_29073804delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29073803C>T , CM000664.2:g.29073803C>T	GRCh38
NC_000002.11:g.29296669C>T , CM000664.1:g.29296669C>T	GRCh37
NC_000002.10:g.29150173C>T	NCBI36
NG_021427.1:g.5459G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.459G>A MANE Select	ENSP00000332809.4:p.Thr153=
ENST00000331664.5:c.459G>A	ENSP00000332809.4:p.Thr153=
NM_001029883.2:c.459G>A	NP_001025054.1:p.Thr153=
XM_011532826.1:c.459G>A	XP_011531128.1:p.Thr153=
XR_939901.1:n.185+4636C>T
XR_939902.1:n.173+4648C>T
NM_001029883.3:c.459G>A MANE Select	NP_001025054.1:p.Thr153=