Canonical Allele Identifier: CA425437993
Gene: PCARE HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.29293546A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070680A>C , CM000664.2:g.29070680A>C GRCh38
NC_000002.11:g.29293546A>C , CM000664.1:g.29293546A>C GRCh37
NC_000002.10:g.29147050A>C NCBI36
NG_021427.1:g.8582T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3582T>G MANE Select ENSP00000332809.4:p.Ala1194=
ENST00000331664.5:c.3582T>G ENSP00000332809.4:p.Ala1194=
NM_001029883.2:c.3582T>G NP_001025054.1:p.Ala1194=
XM_011532826.1:c.3582T>G XP_011531128.1:p.Ala1194=
XR_939901.1:n.185+1513A>C
XR_939902.1:n.173+1525A>C
NM_001029883.3:c.3582T>G MANE Select NP_001025054.1:p.Ala1194=