Canonical Allele Identifier: CA346476002

Gene: PCARE

Linked Data

• MyVariant Identifiers: chr2:g.29294129T>A (hg19) ; chr2:g.29071263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.29071263T>A , CM000664.2:g.29071263T>A	GRCh38
NC_000002.11:g.29294129T>A , CM000664.1:g.29294129T>A	GRCh37
NC_000002.10:g.29147633T>A	NCBI36
NG_021427.1:g.7999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331664.6:c.2999A>T MANE Select	ENSP00000332809.4:p.His1000Leu
ENST00000331664.5:c.2999A>T	ENSP00000332809.4:p.His1000Leu
NM_001029883.2:c.2999A>T	NP_001025054.1:p.His1000Leu
XM_011532826.1:c.2999A>T	XP_011531128.1:p.His1000Leu
XR_939901.1:n.185+2096T>A
XR_939902.1:n.173+2108T>A
NM_001029883.3:c.2999A>T MANE Select	NP_001025054.1:p.His1000Leu