Canonical Allele Identifier: CA1592393

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335658
• ClinVar RCV Id: RCV000339383 ; RCV000757047 ; RCV001282964 ; RCV003888797
• dbSNP Id: rs80151896
• ExAC: 2:29295546 G / A
• gnomAD v2: 2-29295546-G-A
• gnomAD v3: 2-29072680-G-A
• gnomAD v4: 2-29072680-G-A
• MyVariant Identifiers: chr2:g.29295546G>A (hg19) ; chr2:g.29072680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072680G>A , CM000664.2:g.29072680G>A	GRCh38
NC_000002.11:g.29295546G>A , CM000664.1:g.29295546G>A	GRCh37
NC_000002.10:g.29149050G>A	NCBI36
NG_021427.1:g.6582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1582C>T MANE Select	ENSP00000332809.4:p.Arg528Cys
ENST00000331664.5:c.1582C>T	ENSP00000332809.4:p.Arg528Cys
NM_001029883.2:c.1582C>T	NP_001025054.1:p.Arg528Cys
XM_011532826.1:c.1582C>T	XP_011531128.1:p.Arg528Cys
XR_939901.1:n.185+3513G>A
XR_939902.1:n.173+3525G>A
NM_001029883.3:c.1582C>T MANE Select	NP_001025054.1:p.Arg528Cys