Canonical Allele Identifier: CA346472845

Gene: PCARE

Linked Data

• dbSNP Id: rs375769419
• MyVariant Identifiers: chr2:g.29293538C>A (hg19) ; chr2:g.29070672C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070672C>A , CM000664.2:g.29070672C>A	GRCh38
NC_000002.11:g.29293538C>A , CM000664.1:g.29293538C>A	GRCh37
NC_000002.10:g.29147042C>A	NCBI36
NG_021427.1:g.8590G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3590G>T MANE Select	ENSP00000332809.4:p.Arg1197Leu
ENST00000331664.5:c.3590G>T	ENSP00000332809.4:p.Arg1197Leu
NM_001029883.2:c.3590G>T	NP_001025054.1:p.Arg1197Leu
XM_011532826.1:c.3590G>T	XP_011531128.1:p.Arg1197Leu
XR_939901.1:n.185+1505C>A
XR_939902.1:n.173+1517C>A
NM_001029883.3:c.3590G>T MANE Select	NP_001025054.1:p.Arg1197Leu