Canonical Allele Identifier: CA1591879
Gene: PCARE HGNC NCBI

Linked Data

dbSNP Id: rs747931529
ExAC: 2:29293511 G / GT
gnomAD v2: 2-29293511-G-GT
gnomAD v4: 2-29070645-G-GT
MyVariant Identifiers: chr2:g.29293511_29293512insT (hg19) chr2:g.29070645_29070646insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.29070645_29070646insT , CM000664.2:g.29070645_29070646insT GRCh38
NC_000002.11:g.29293511_29293512insT , CM000664.1:g.29293511_29293512insT GRCh37
NC_000002.10:g.29147015_29147016insT NCBI36
NG_021427.1:g.8616_8617insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000331664.6:c.3616_3617insA MANE Select ENSP00000332809.4:p.Pro1206HisfsTer11
ENST00000331664.5:c.3616_3617insA ENSP00000332809.4:p.Pro1206HisfsTer11
NM_001029883.2:c.3616_3617insA NP_001025054.1:p.Pro1206HisfsTer11
XM_011532826.1:c.3616_3617insA XP_011531128.1:p.Pro1206HisfsTer11
XR_939901.1:n.185+1478_185+1479insT
XR_939902.1:n.173+1490_173+1491insT
NM_001029883.3:c.3616_3617insA MANE Select NP_001025054.1:p.Pro1206HisfsTer11
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