Canonical Allele Identifier: CA1592032
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs775241996
ExAC: 2:29294052 C / T
gnomAD v2: 2-29294052-C-T
gnomAD v4: 2-29071186-C-T
MyVariant Identifiers: chr2:g.29294052C>T (hg19) chr2:g.29071186C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071186C>T , CM000664.2:g.29071186C>T GRCh38
NC_000002.11:g.29294052C>T , CM000664.1:g.29294052C>T GRCh37
NC_000002.10:g.29147556C>T NCBI36
NG_021427.1:g.8076G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000331664.6:c.3076G>A MANE Select ENSP00000332809.4:p.Val1026Met
ENST00000331664.5:c.3076G>A ENSP00000332809.4:p.Val1026Met
NM_001029883.2:c.3076G>A NP_001025054.1:p.Val1026Met
XM_011532826.1:c.3076G>A XP_011531128.1:p.Val1026Met
XR_939901.1:n.185+2019C>T
XR_939902.1:n.173+2031C>T
NM_001029883.3:c.3076G>A MANE Select NP_001025054.1:p.Val1026Met
Search 100 bp 5'
Search 100 bp 3'