Canonical Allele Identifier: CA425617953
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1667520506
MyVariant Identifiers: chr2:g.29295862A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29072996A>G , CM000664.2:g.29072996A>G GRCh38
NC_000002.11:g.29295862A>G , CM000664.1:g.29295862A>G GRCh37
NC_000002.10:g.29149366A>G NCBI36
NG_021427.1:g.6266T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.1266T>C MANE Select ENSP00000332809.4:p.Val422=
ENST00000331664.5:c.1266T>C ENSP00000332809.4:p.Val422=
NM_001029883.2:c.1266T>C NP_001025054.1:p.Val422=
XM_011532826.1:c.1266T>C XP_011531128.1:p.Val422=
XR_939901.1:n.185+3829A>G
XR_939902.1:n.173+3841A>G
NM_001029883.3:c.1266T>C MANE Select NP_001025054.1:p.Val422=