Canonical Allele Identifier: CA1420122

Gene: PYCR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.225921330G>C , CM000663.2:g.225921330G>C	GRCh38
NC_000001.10:g.226109030G>C , CM000663.1:g.226109030G>C	GRCh37
NC_000001.9:g.224175653G>C	NCBI36
NG_044963.1:g.8011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343818.11:c.675C>G MANE Select	ENSP00000342502.6:p.Cys225Trp
ENST00000343818.10:c.675C>G	ENSP00000342502.6:p.Cys225Trp
ENST00000432920.2:c.453C>G	ENSP00000414068.2:p.Cys151Trp
ENST00000446534.1:n.1233C>G
ENST00000466127.1:n.392C>G
ENST00000478402.5:n.2284C>G
ENST00000612039.4:c.453C>G	ENSP00000478165.1:p.Cys151Trp
ENST00000612651.4:c.672C>G	ENSP00000482845.1:p.Cys224Trp
NM_001271681.1:c.453C>G	NP_001258610.1:p.Cys151Trp
NM_013328.3:c.675C>G	NP_037460.2:p.Cys225Trp
NM_013328.4:c.675C>G MANE Select	NP_037460.2:p.Cys225Trp
NM_001271681.2:c.453C>G	NP_001258610.1:p.Cys151Trp