Canonical Allele Identifier: CA345006148
Gene: PYCR2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.225921998C>T
GRCh37 chr1:g.226109698C>T
Revel Score:
ENST00000343818 (MANE Select) 0.356
ENST00000316940 0.356
ENST00000316918 0.356
ClinVar RCV:
RCV001264780
ClinVar Variation:
872905
dbSNP:
1671854827
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.225921998C>T , CM000663.2:g.225921998C>T GRCh38
NC_000001.10:g.226109698C>T , CM000663.1:g.226109698C>T GRCh37
NC_000001.9:g.224176321C>T NCBI36
NG_044963.1:g.7343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343818.11:c.400G>A MANE Select ENSP00000342502.6:p.Val134Met
ENST00000343818.10:c.400G>A ENSP00000342502.6:p.Val134Met
ENST00000432920.2:c.318+206G>A ENSP00000414068.2:n.318+206G>A
ENST00000446534.1:n.958G>A
ENST00000478402.5:n.2009G>A
ENST00000489681.5:c.292G>A ENSP00000482614.1:p.Val98Met
ENST00000612039.4:c.318+206G>A ENSP00000478165.1:n.318+206G>A
ENST00000612651.4:c.397G>A ENSP00000482845.1:p.Val133Met
NM_001271681.1:c.318+206G>A NP_001258610.1:n.318+206G>A
NM_013328.3:c.400G>A NP_037460.2:p.Val134Met
NM_013328.4:c.400G>A MANE Select NP_037460.2:p.Val134Met
NM_001271681.2:c.318+206G>A NP_001258610.1:n.318+206G>A
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