Canonical Allele Identifier: CA1592606
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs778953966
ExAC: 2:29296456 C / G
gnomAD v2: 2-29296456-C-G
MyVariant Identifiers: chr2:g.29296456C>G (hg19) chr2:g.29073590C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29073590C>G , CM000664.2:g.29073590C>G GRCh38
NC_000002.11:g.29296456C>G , CM000664.1:g.29296456C>G GRCh37
NC_000002.10:g.29149960C>G NCBI36
NG_021427.1:g.5672G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.672G>C MANE Select ENSP00000332809.4:p.Leu224=
ENST00000331664.5:c.672G>C ENSP00000332809.4:p.Leu224=
NM_001029883.2:c.672G>C NP_001025054.1:p.Leu224=
XM_011532826.1:c.672G>C XP_011531128.1:p.Leu224=
XR_939901.1:n.185+4423C>G
XR_939902.1:n.173+4435C>G
NM_001029883.3:c.672G>C MANE Select NP_001025054.1:p.Leu224=
Search 100 bp 5'
Search 100 bp 3'