Canonical Allele Identifier: CA1592730

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335674
• ClinVar RCV Id: RCV000278249 ; RCV001511731 ; RCV001554627 ; RCV003888803
• dbSNP Id: rs35929540
• ExAC: 2:29297068 C / T
• gnomAD v2: 2-29297068-C-T
• gnomAD v3: 2-29074202-C-T
• gnomAD v4: 2-29074202-C-T
• MyVariant Identifiers: chr2:g.29297068C>T (hg19) ; chr2:g.29074202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29074202C>T , CM000664.2:g.29074202C>T	GRCh38
NC_000002.11:g.29297068C>T , CM000664.1:g.29297068C>T	GRCh37
NC_000002.10:g.29150572C>T	NCBI36
NG_021427.1:g.5060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.60G>A MANE Select	ENSP00000332809.4:p.Gln20=
ENST00000331664.5:c.60G>A	ENSP00000332809.4:p.Gln20=
NM_001029883.2:c.60G>A	NP_001025054.1:p.Gln20=
XM_011532826.1:c.60G>A	XP_011531128.1:p.Gln20=
XR_939901.1:n.185+5035C>T
XR_939902.1:n.173+5047C>T
NM_001029883.3:c.60G>A MANE Select	NP_001025054.1:p.Gln20=