Canonical Allele Identifier: CA361539821

Gene: RELL2 FCHSD1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.141639480A>G , CM000667.2:g.141639480A>G	GRCh38
NC_000005.9:g.141019047A>G , CM000667.1:g.141019047A>G	GRCh37
NC_000005.8:g.140999231A>G	NCBI36
NG_029678.1:g.2377T>C
NG_029678.2:g.2377T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_033449.3:c.*2018T>C (FCHSD1) MANE Select	NP_258260.1:n.*2018T>C
NM_173828.5:c.334A>G (RELL2) MANE Select	NP_776189.3:p.Ser112Gly
ENST00000297164.8:c.334A>G (RELL2) MANE Select	ENSP00000297164.3:p.Ser112Gly
ENST00000435817.7:c.*2018T>C (FCHSD1) MANE Select	ENSP00000399259.2:n.*2018T>C
NM_001130029.1:c.334A>G (RELL2)	NP_001123501.1:p.Ser112Gly
NM_001130029.2:c.334A>G (RELL2)	NP_001123501.1:p.Ser112Gly
NM_033449.2:c.*2018T>C (FCHSD1)	NP_258260.1:n.*2018T>C
NM_173828.4:c.334A>G (RELL2)	NP_776189.3:p.Ser112Gly
ENST00000297164.7:c.334A>G (RELL2)	ENSP00000297164.3:p.Ser112Gly
ENST00000435817.6:c.*2018T>C (FCHSD1)	ENSP00000399259.2:n.*2018T>C
ENST00000444782.5:c.334A>G (RELL2)	ENSP00000409443.1:p.Ser112Gly
ENST00000517794.1:n.695A>G (RELL2)
ENST00000518025.5:n.1488A>G (RELL2)
ENST00000518856.1:c.136A>G (RELL2)	ENSP00000427992.1:p.Ser46Gly
ENST00000520674.5:n.1527-440A>G (RELL2)
ENST00000520747.1:n.3004T>C (FCHSD1)
ENST00000521367.5:c.136A>G (RELL2)	ENSP00000430948.1:p.Ser46Gly
ENST00000523856.5:n.3760T>C (FCHSD1)
XM_005268414.3:c.334A>G (RELL2)	XP_005268471.1:p.Ser112Gly
XM_005268414.4:c.334A>G (RELL2)	XP_005268471.1:p.Ser112Gly
XM_011537623.1:c.334A>G (RELL2)	XP_011535925.1:p.Ser112Gly
XM_011537624.1:c.334A>G (RELL2)	XP_011535926.1:p.Ser112Gly
XM_011537624.2:c.334A>G (RELL2)	XP_011535926.1:p.Ser112Gly
XM_011537625.1:c.334A>G (RELL2)	XP_011535927.1:p.Ser112Gly
XM_011537625.3:c.334A>G (RELL2)	XP_011535927.1:p.Ser112Gly
XM_024446029.1:c.334A>G (RELL2)	XP_024301797.1:p.Ser112Gly