Canonical Allele Identifier: CA10586380
Gene: PYCR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 254247
ClinVar RCV Id: RCV000240851 RCV000578599
dbSNP Id: rs886037931
gnomAD v2: 1-226108909-G-A
gnomAD v4: 1-225921209-G-A
MyVariant Identifiers: chr1:g.226108909G>A (hg19) chr1:g.225921209G>A (hg38)
PubMed: PMID:27130255
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225921209G>A , CM000663.2:g.225921209G>A GRCh38
NC_000001.10:g.226108909G>A , CM000663.1:g.226108909G>A GRCh37
NC_000001.9:g.224175532G>A NCBI36
NG_044963.1:g.8132C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343818.11:c.796C>T MANE Select ENSP00000342502.6:p.Arg266Ter
ENST00000343818.10:c.796C>T ENSP00000342502.6:p.Arg266Ter
ENST00000432920.2:c.574C>T ENSP00000414068.2:p.Arg192Ter
ENST00000478402.5:n.2405C>T
ENST00000612039.4:c.574C>T ENSP00000478165.1:p.Arg192Ter
ENST00000612651.4:c.793C>T ENSP00000482845.1:p.Arg265Ter
NM_001271681.1:c.574C>T NP_001258610.1:p.Arg192Ter
NM_013328.3:c.796C>T NP_037460.2:p.Arg266Ter
NM_013328.4:c.796C>T MANE Select NP_037460.2:p.Arg266Ter
NM_001271681.2:c.574C>T NP_001258610.1:p.Arg192Ter
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