Canonical Allele Identifier: CA1592019

Gene: PCARE

Linked Data

• dbSNP Id: rs780255680
• ExAC: 2:29294020 G / GT
• gnomAD v2: 2-29294020-G-GT
• gnomAD v4: 2-29071154-G-GT
• MyVariant Identifiers: chr2:g.29294020_29294021insT (hg19) ; chr2:g.29071154_29071155insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071154_29071155insT , CM000664.2:g.29071154_29071155insT	GRCh38
NC_000002.11:g.29294020_29294021insT , CM000664.1:g.29294020_29294021insT	GRCh37
NC_000002.10:g.29147524_29147525insT	NCBI36
NG_021427.1:g.8107_8108insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3107_3108insA MANE Select	ENSP00000332809.4:p.Arg1037GlnfsTer?
ENST00000331664.5:c.3107_3108insA	ENSP00000332809.4:p.Arg1037GlnfsTer?
NM_001029883.2:c.3107_3108insA	NP_001025054.1:p.Arg1037GlnfsTer?
XM_011532826.1:c.3107_3108insA	XP_011531128.1:p.Arg1037GlnfsTer?
XR_939901.1:n.185+1987_185+1988insT
XR_939902.1:n.173+1999_173+2000insT
NM_001029883.3:c.3107_3108insA MANE Select	NP_001025054.1:p.Arg1037GlnfsTer?