Canonical Allele Identifier: CA1592068

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335644
• ClinVar RCV Id: RCV000308438 ; RCV001509946 ; RCV003888794
• dbSNP Id: rs184281410
• ExAC: 2:29294163 G / C
• gnomAD v2: 2-29294163-G-C
• gnomAD v3: 2-29071297-G-C
• gnomAD v4: 2-29071297-G-C
• MyVariant Identifiers: chr2:g.29294163G>C (hg19) ; chr2:g.29071297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071297G>C , CM000664.2:g.29071297G>C	GRCh38
NC_000002.11:g.29294163G>C , CM000664.1:g.29294163G>C	GRCh37
NC_000002.10:g.29147667G>C	NCBI36
NG_021427.1:g.7965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.2965C>G MANE Select	ENSP00000332809.4:p.Pro989Ala
ENST00000331664.5:c.2965C>G	ENSP00000332809.4:p.Pro989Ala
NM_001029883.2:c.2965C>G	NP_001025054.1:p.Pro989Ala
XM_011532826.1:c.2965C>G	XP_011531128.1:p.Pro989Ala
XR_939901.1:n.185+2130G>C
XR_939902.1:n.173+2142G>C
NM_001029883.3:c.2965C>G MANE Select	NP_001025054.1:p.Pro989Ala