Canonical Allele Identifier: CA238639

Gene: PCARE

Linked Data

• ClinVar Variation Id: 193134
• ClinVar RCV Id: RCV000173180 ; RCV000314136
• dbSNP Id: rs201355503
• ExAC: 2:29294070 G / T
• gnomAD v2: 2-29294070-G-T
• gnomAD v3: 2-29071204-G-T
• gnomAD v4: 2-29071204-G-T
• MyVariant Identifiers: chr2:g.29294070G>T (hg19) ; chr2:g.29071204G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071204G>T , CM000664.2:g.29071204G>T	GRCh38
NC_000002.11:g.29294070G>T , CM000664.1:g.29294070G>T	GRCh37
NC_000002.10:g.29147574G>T	NCBI36
NG_021427.1:g.8058C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3058C>A MANE Select	ENSP00000332809.4:p.Gln1020Lys
ENST00000331664.5:c.3058C>A	ENSP00000332809.4:p.Gln1020Lys
NM_001029883.2:c.3058C>A	NP_001025054.1:p.Gln1020Lys
XM_011532826.1:c.3058C>A	XP_011531128.1:p.Gln1020Lys
XR_939901.1:n.185+2037G>T
XR_939902.1:n.173+2049G>T
NM_001029883.3:c.3058C>A MANE Select	NP_001025054.1:p.Gln1020Lys