Canonical Allele Identifier: CA425438004

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29293558G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29070692G>A , CM000664.2:g.29070692G>A	GRCh38
NC_000002.11:g.29293558G>A , CM000664.1:g.29293558G>A	GRCh37
NC_000002.10:g.29147062G>A	NCBI36
NG_021427.1:g.8570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.3570C>T MANE Select	ENSP00000332809.4:p.Leu1190=
ENST00000331664.5:c.3570C>T	ENSP00000332809.4:p.Leu1190=
NM_001029883.2:c.3570C>T	NP_001025054.1:p.Leu1190=
XM_011532826.1:c.3570C>T	XP_011531128.1:p.Leu1190=
XR_939901.1:n.185+1525G>A
XR_939902.1:n.173+1537G>A
NM_001029883.3:c.3570C>T MANE Select	NP_001025054.1:p.Leu1190=