Canonical Allele Identifier: CA1592433

Gene: PCARE

Linked Data

• ClinVar Variation Id: 728217
• ClinVar RCV Id: RCV000902656 ; RCV001136796
• dbSNP Id: rs199764925
• ExAC: 2:29295741 C / A
• gnomAD v2: 2-29295741-C-A
• gnomAD v3: 2-29072875-C-A
• gnomAD v4: 2-29072875-C-A
• MyVariant Identifiers: chr2:g.29295741C>A (hg19) ; chr2:g.29072875C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072875C>A , CM000664.2:g.29072875C>A	GRCh38
NC_000002.11:g.29295741C>A , CM000664.1:g.29295741C>A	GRCh37
NC_000002.10:g.29149245C>A	NCBI36
NG_021427.1:g.6387G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1387G>T MANE Select	ENSP00000332809.4:p.Val463Phe
ENST00000331664.5:c.1387G>T	ENSP00000332809.4:p.Val463Phe
NM_001029883.2:c.1387G>T	NP_001025054.1:p.Val463Phe
XM_011532826.1:c.1387G>T	XP_011531128.1:p.Val463Phe
XR_939901.1:n.185+3708C>A
XR_939902.1:n.173+3720C>A
NM_001029883.3:c.1387G>T MANE Select	NP_001025054.1:p.Val463Phe