Canonical Allele Identifier: CA1591996

Gene: PCARE

Linked Data

• dbSNP Id: rs757391015
• ExAC: 2:29293944 C / CG
• gnomAD v2: 2-29293944-C-CG
• gnomAD v3: 2-29071078-C-CG
• gnomAD v4: 2-29071078-C-CG
• MyVariant Identifiers: chr2:g.29293945_29293946insG (hg19) ; chr2:g.29293944_29293945insG (hg19) ; chr2:g.29071079_29071080insG (hg38) ; chr2:g.29071078_29071079insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071084dup , CM000664.2:g.29071084dup	GRCh38
NC_000002.11:g.29293950dup , CM000664.1:g.29293950dup	GRCh37
NC_000002.10:g.29147454dup	NCBI36
NG_021427.1:g.8183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3183dup MANE Select	ENSP00000332809.4:p.Glu1062ArgfsTer?
ENST00000331664.5:c.3183dup	ENSP00000332809.4:p.Glu1062ArgfsTer?
NM_001029883.2:c.3183dup	NP_001025054.1:p.Glu1062ArgfsTer?
XM_011532826.1:c.3183dup	XP_011531128.1:p.Glu1062ArgfsTer?
XR_939901.1:n.185+1917dup
XR_939902.1:n.173+1929dup
NM_001029883.3:c.3183dup MANE Select	NP_001025054.1:p.Glu1062ArgfsTer?