Canonical Allele Identifier: CA238641

Gene: PCARE

Linked Data

• ClinVar Variation Id: 193135
• ClinVar RCV Id: RCV000173181 ; RCV001141416
• dbSNP Id: rs200367963
• ExAC: 2:29294069 T / C
• gnomAD v2: 2-29294069-T-C
• gnomAD v3: 2-29071203-T-C
• gnomAD v4: 2-29071203-T-C
• MyVariant Identifiers: chr2:g.29294069T>C (hg19) ; chr2:g.29071203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071203T>C , CM000664.2:g.29071203T>C	GRCh38
NC_000002.11:g.29294069T>C , CM000664.1:g.29294069T>C	GRCh37
NC_000002.10:g.29147573T>C	NCBI36
NG_021427.1:g.8059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3059A>G MANE Select	ENSP00000332809.4:p.Gln1020Arg
ENST00000331664.5:c.3059A>G	ENSP00000332809.4:p.Gln1020Arg
NM_001029883.2:c.3059A>G	NP_001025054.1:p.Gln1020Arg
XM_011532826.1:c.3059A>G	XP_011531128.1:p.Gln1020Arg
XR_939901.1:n.185+2036T>C
XR_939902.1:n.173+2048T>C
NM_001029883.3:c.3059A>G MANE Select	NP_001025054.1:p.Gln1020Arg