Canonical Allele Identifier: CA346480863

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29296011G>T (hg19) ; chr2:g.29073145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29073145G>T , CM000664.2:g.29073145G>T	GRCh38
NC_000002.11:g.29296011G>T , CM000664.1:g.29296011G>T	GRCh37
NC_000002.10:g.29149515G>T	NCBI36
NG_021427.1:g.6117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.1117C>A MANE Select	ENSP00000332809.4:p.Leu373Ile
ENST00000331664.5:c.1117C>A	ENSP00000332809.4:p.Leu373Ile
NM_001029883.2:c.1117C>A	NP_001025054.1:p.Leu373Ile
XM_011532826.1:c.1117C>A	XP_011531128.1:p.Leu373Ile
XR_939901.1:n.185+3978G>T
XR_939902.1:n.173+3990G>T
NM_001029883.3:c.1117C>A MANE Select	NP_001025054.1:p.Leu373Ile