Canonical Allele Identifier: CA358006

Gene: ELP2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36142309A>G , CM000680.2:g.36142309A>G	GRCh38
NC_000018.9:g.33722272A>G , CM000680.1:g.33722272A>G	GRCh37
NC_000018.8:g.31976270A>G	NCBI36
NG_050745.1:g.17436A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018255.4:c.617A>G MANE Select	NP_060725.1:p.His206Arg
ENST00000358232.11:c.617A>G MANE Select	ENSP00000350967.6:p.His206Arg
NM_001242875.1:c.812A>G	NP_001229804.1:p.His271Arg
NM_001242875.2:c.812A>G	NP_001229804.1:p.His271Arg
NM_001242875.3:c.812A>G	NP_001229804.1:p.His271Arg
NM_001242876.1:c.734A>G	NP_001229805.1:p.His245Arg
NM_001242876.2:c.734A>G	NP_001229805.1:p.His245Arg
NM_001242876.3:c.734A>G	NP_001229805.1:p.His245Arg
NM_001242877.1:c.539A>G	NP_001229806.1:p.His180Arg
NM_001242877.2:c.539A>G	NP_001229806.1:p.His180Arg
NM_001242877.3:c.539A>G	NP_001229806.1:p.His180Arg
NM_001242878.1:c.539A>G	NP_001229807.1:p.His180Arg
NM_001242878.2:c.539A>G	NP_001229807.1:p.His180Arg
NM_001242878.3:c.539A>G	NP_001229807.1:p.His180Arg
NM_001242879.1:c.446-517A>G	NP_001229808.1:n.446-517A>G
NM_001242879.2:c.446-517A>G	NP_001229808.1:n.446-517A>G
NM_001242879.3:c.446-517A>G	NP_001229808.1:n.446-517A>G
NM_001324465.1:c.617A>G	NP_001311394.1:p.His206Arg
NM_001324465.2:c.617A>G	NP_001311394.1:p.His206Arg
NM_001324466.1:c.734A>G	NP_001311395.1:p.His245Arg
NM_001324466.2:c.734A>G	NP_001311395.1:p.His245Arg
NM_001324467.1:c.617A>G	NP_001311396.1:p.His206Arg
NM_001324467.2:c.617A>G	NP_001311396.1:p.His206Arg
NM_001324468.1:c.170A>G	NP_001311397.1:p.His57Arg
NM_001324468.2:c.170A>G	NP_001311397.1:p.His57Arg
NM_018255.2:c.617A>G	NP_060725.1:p.His206Arg
NM_018255.3:c.617A>G	NP_060725.1:p.His206Arg
NR_040110.1:n.677A>G
NR_040110.2:n.677A>G
NR_040110.3:n.652A>G
NR_136897.1:n.649-517A>G
NR_136897.2:n.624-517A>G
NR_136898.1:n.677A>G
NR_136898.2:n.652A>G
NR_137173.1:n.677A>G
NR_137173.2:n.652A>G
ENST00000350494.10:c.734A>G	ENSP00000316051.6:p.His245Arg
ENST00000351393.10:c.539A>G	ENSP00000257191.7:p.His180Arg
ENST00000358232.10:c.617A>G	ENSP00000350967.6:p.His206Arg
ENST00000423854.6:c.446-517A>G	ENSP00000391202.2:n.446-517A>G
ENST00000442325.6:c.812A>G	ENSP00000414851.2:p.His271Arg
ENST00000535093.1:n.79A>G
ENST00000536373.5:n.160A>G
ENST00000539560.5:c.617A>G	ENSP00000443555.1:p.His206Arg
ENST00000540323.5:n.504A>G
ENST00000540730.5:n.576A>G
ENST00000540799.1:c.288+5932A>G	ENSP00000468091.1:n.288+5932A>G
ENST00000542430.5:c.*229A>G	ENSP00000440774.1:n.*229A>G
ENST00000542824.5:c.539A>G	ENSP00000443800.1:p.His180Arg
ENST00000543127.5:c.170A>G	ENSP00000440426.1:p.His57Arg
ENST00000543439.5:n.391A>G
ENST00000545632.5:c.*304A>G	ENSP00000438533.1:n.*304A>G
XR_430081.1:n.847A>G
XR_430081.2:n.847A>G