Canonical Allele Identifier: CA346480291

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29295735C>T (hg19) ; chr2:g.29072869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29072869C>T , CM000664.2:g.29072869C>T	GRCh38
NC_000002.11:g.29295735C>T , CM000664.1:g.29295735C>T	GRCh37
NC_000002.10:g.29149239C>T	NCBI36
NG_021427.1:g.6393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1393G>A MANE Select	ENSP00000332809.4:p.Val465Met
ENST00000331664.5:c.1393G>A	ENSP00000332809.4:p.Val465Met
NM_001029883.2:c.1393G>A	NP_001025054.1:p.Val465Met
XM_011532826.1:c.1393G>A	XP_011531128.1:p.Val465Met
XR_939901.1:n.185+3702C>T
XR_939902.1:n.173+3714C>T
NM_001029883.3:c.1393G>A MANE Select	NP_001025054.1:p.Val465Met