Canonical Allele Identifier: CA346472792
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs1197044515
gnomAD v2: 2-29293509-T-A
gnomAD v3: 2-29070643-T-A
gnomAD v4: 2-29070643-T-A
MyVariant Identifiers: chr2:g.29293509T>A (hg19) chr2:g.29070643T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070643T>A , CM000664.2:g.29070643T>A GRCh38
NC_000002.11:g.29293509T>A , CM000664.1:g.29293509T>A GRCh37
NC_000002.10:g.29147013T>A NCBI36
NG_021427.1:g.8619A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3619A>T MANE Select ENSP00000332809.4:p.Thr1207Ser
ENST00000331664.5:c.3619A>T ENSP00000332809.4:p.Thr1207Ser
NM_001029883.2:c.3619A>T NP_001025054.1:p.Thr1207Ser
XM_011532826.1:c.3619A>T XP_011531128.1:p.Thr1207Ser
XR_939901.1:n.185+1476T>A
XR_939902.1:n.173+1488T>A
NM_001029883.3:c.3619A>T MANE Select NP_001025054.1:p.Thr1207Ser
Search 100 bp 5'
Search 100 bp 3'