Canonical Allele Identifier: CA1592458

Gene: PCARE

Linked Data

• ClinVar Variation Id: 335664
• ClinVar RCV Id: RCV000355654 ; RCV000489456 ; RCV000766629 ; RCV000765664 ; RCV003922450
• dbSNP Id: rs200696965
• ExAC: 2:29295831 G / A
• gnomAD v2: 2-29295831-G-A
• gnomAD v3: 2-29072965-G-A
• gnomAD v4: 2-29072965-G-A
• COSMIC: COSM4093743
• MyVariant Identifiers: chr2:g.29295831G>A (hg19) ; chr2:g.29072965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072965G>A , CM000664.2:g.29072965G>A	GRCh38
NC_000002.11:g.29295831G>A , CM000664.1:g.29295831G>A	GRCh37
NC_000002.10:g.29149335G>A	NCBI36
NG_021427.1:g.6297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1297C>T MANE Select	ENSP00000332809.4:p.Pro433Ser
ENST00000331664.5:c.1297C>T	ENSP00000332809.4:p.Pro433Ser
NM_001029883.2:c.1297C>T	NP_001025054.1:p.Pro433Ser
XM_011532826.1:c.1297C>T	XP_011531128.1:p.Pro433Ser
XR_939901.1:n.185+3798G>A
XR_939902.1:n.173+3810G>A
NM_001029883.3:c.1297C>T MANE Select	NP_001025054.1:p.Pro433Ser