Canonical Allele Identifier: CA1592119

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335646
• ClinVar RCV Id: RCV000302153 ; RCV001365263 ; RCV003888795
• dbSNP Id: rs200817926
• ExAC: 2:29294325 C / T
• gnomAD v2: 2-29294325-C-T
• gnomAD v3: 2-29071459-C-T
• gnomAD v4: 2-29071459-C-T
• MyVariant Identifiers: chr2:g.29294325C>T (hg19) ; chr2:g.29071459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071459C>T , CM000664.2:g.29071459C>T	GRCh38
NC_000002.11:g.29294325C>T , CM000664.1:g.29294325C>T	GRCh37
NC_000002.10:g.29147829C>T	NCBI36
NG_021427.1:g.7803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.2803G>A MANE Select	ENSP00000332809.4:p.Glu935Lys
ENST00000331664.5:c.2803G>A	ENSP00000332809.4:p.Glu935Lys
NM_001029883.2:c.2803G>A	NP_001025054.1:p.Glu935Lys
XM_011532826.1:c.2803G>A	XP_011531128.1:p.Glu935Lys
XR_939901.1:n.185+2292C>T
XR_939902.1:n.173+2304C>T
NM_001029883.3:c.2803G>A MANE Select	NP_001025054.1:p.Glu935Lys