Canonical Allele Identifier: CA1420163

Gene: PYCR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225921589C>T , CM000663.2:g.225921589C>T	GRCh38
NC_000001.10:g.226109289C>T , CM000663.1:g.226109289C>T	GRCh37
NC_000001.9:g.224175912C>T	NCBI36
NG_044963.1:g.7752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343818.11:c.596G>A MANE Select	ENSP00000342502.6:p.Arg199Gln
ENST00000343818.10:c.596G>A	ENSP00000342502.6:p.Arg199Gln
ENST00000432920.2:c.374G>A	ENSP00000414068.2:p.Arg125Gln
ENST00000446534.1:n.1154G>A
ENST00000466127.1:n.133G>A
ENST00000478402.5:n.2205G>A
ENST00000612039.4:c.374G>A	ENSP00000478165.1:p.Arg125Gln
ENST00000612651.4:c.593G>A	ENSP00000482845.1:p.Arg198Gln
NM_001271681.1:c.374G>A	NP_001258610.1:p.Arg125Gln
NM_013328.3:c.596G>A	NP_037460.2:p.Arg199Gln
NM_013328.4:c.596G>A MANE Select	NP_037460.2:p.Arg199Gln
NM_001271681.2:c.374G>A	NP_001258610.1:p.Arg125Gln