Canonical Allele Identifier: CA345006437

Gene: PYCR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225922042C>T , CM000663.2:g.225922042C>T	GRCh38
NC_000001.10:g.226109742C>T , CM000663.1:g.226109742C>T	GRCh37
NC_000001.9:g.224176365C>T	NCBI36
NG_044963.1:g.7299G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343818.11:c.356G>A MANE Select	ENSP00000342502.6:p.Arg119His
ENST00000343818.10:c.356G>A	ENSP00000342502.6:p.Arg119His
ENST00000432920.2:c.318+162G>A	ENSP00000414068.2:n.318+162G>A
ENST00000446534.1:n.914G>A
ENST00000472798.2:c.248G>A	ENSP00000480779.1:p.Arg83His
ENST00000478402.5:n.1965G>A
ENST00000489681.5:c.248G>A	ENSP00000482614.1:p.Arg83His
ENST00000612039.4:c.318+162G>A	ENSP00000478165.1:n.318+162G>A
ENST00000612651.4:c.353G>A	ENSP00000482845.1:p.Arg118His
NM_001271681.1:c.318+162G>A	NP_001258610.1:n.318+162G>A
NM_013328.3:c.356G>A	NP_037460.2:p.Arg119His
NM_013328.4:c.356G>A MANE Select	NP_037460.2:p.Arg119His
NM_001271681.2:c.318+162G>A	NP_001258610.1:n.318+162G>A