Canonical Allele Identifier: CA1592082
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs750512884
ExAC: 2:29294210 G / T
gnomAD v2: 2-29294210-G-T
gnomAD v3: 2-29071344-G-T
gnomAD v4: 2-29071344-G-T
MyVariant Identifiers: chr2:g.29294210G>T (hg19) chr2:g.29071344G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29071344G>T , CM000664.2:g.29071344G>T GRCh38
NC_000002.11:g.29294210G>T , CM000664.1:g.29294210G>T GRCh37
NC_000002.10:g.29147714G>T NCBI36
NG_021427.1:g.7918C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.2918C>A MANE Select ENSP00000332809.4:p.Ser973Ter
ENST00000331664.5:c.2918C>A ENSP00000332809.4:p.Ser973Ter
NM_001029883.2:c.2918C>A NP_001025054.1:p.Ser973Ter
XM_011532826.1:c.2918C>A XP_011531128.1:p.Ser973Ter
XR_939901.1:n.185+2177G>T
XR_939902.1:n.173+2189G>T
NM_001029883.3:c.2918C>A MANE Select NP_001025054.1:p.Ser973Ter
Search 100 bp 5'
Search 100 bp 3'