Canonical Allele Identifier: CA345006148

Gene: PYCR2

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
NM_013328.4:c.400G>A MANE Select	NP_037460.2:p.Val134Met
ENST00000343818.11:c.400G>A MANE Select	ENSP00000342502.6:p.Val134Met
NM_001271681.1:c.318+206G>A	NP_001258610.1:n.318+206G>A
NM_001271681.2:c.318+206G>A	NP_001258610.1:n.318+206G>A
NM_013328.3:c.400G>A	NP_037460.2: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