Canonical Allele Identifier: CA1592365

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335655
• ClinVar RCV Id: RCV000344763 ; RCV000506727 ; RCV001511104 ; RCV003888796
• dbSNP Id: rs10166913
• ExAC: 2:29295389 G / A
• gnomAD v2: 2-29295389-G-A
• gnomAD v3: 2-29072523-G-A
• gnomAD v4: 2-29072523-G-A
• MyVariant Identifiers: chr2:g.29295389G>A (hg19) ; chr2:g.29072523G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072523G>A , CM000664.2:g.29072523G>A	GRCh38
NC_000002.11:g.29295389G>A , CM000664.1:g.29295389G>A	GRCh37
NC_000002.10:g.29148893G>A	NCBI36
NG_021427.1:g.6739C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1739C>T MANE Select	ENSP00000332809.4:p.Thr580Met
ENST00000331664.5:c.1739C>T	ENSP00000332809.4:p.Thr580Met
NM_001029883.2:c.1739C>T	NP_001025054.1:p.Thr580Met
XM_011532826.1:c.1739C>T	XP_011531128.1:p.Thr580Met
XR_939901.1:n.185+3356G>A
XR_939902.1:n.173+3368G>A
NM_001029883.3:c.1739C>T MANE Select	NP_001025054.1:p.Thr580Met