Canonical Allele Identifier: CA425438016
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1572825600
MyVariant Identifiers: chr2:g.29293576G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070710G>A , CM000664.2:g.29070710G>A GRCh38
NC_000002.11:g.29293576G>A , CM000664.1:g.29293576G>A GRCh37
NC_000002.10:g.29147080G>A NCBI36
NG_021427.1:g.8552C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3552C>T MANE Select ENSP00000332809.4:p.Leu1184=
ENST00000331664.5:c.3552C>T ENSP00000332809.4:p.Leu1184=
NM_001029883.2:c.3552C>T NP_001025054.1:p.Leu1184=
XM_011532826.1:c.3552C>T XP_011531128.1:p.Leu1184=
XR_939901.1:n.185+1543G>A
XR_939902.1:n.173+1555G>A
NM_001029883.3:c.3552C>T MANE Select NP_001025054.1:p.Leu1184=