Canonical Allele Identifier: CA350708773

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353901T>A (hg19) ; chr2:g.219489179T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489179T>A , CM000664.2:g.219489179T>A	GRCh38
NC_000002.11:g.220353901T>A , CM000664.1:g.220353901T>A	GRCh37
NC_000002.10:g.220062145T>A	NCBI36
NG_051022.1:g.59965T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8275T>A (SPEG) MANE Select	ENSP00000311684.7:p.Phe2759Ile
ENST00000312358.11:c.8275T>A (SPEG)	ENSP00000311684.7:p.Phe2759Ile
ENST00000485813.5:n.7518T>A (SPEG)
NM_005876.4:c.8275T>A (SPEG)	NP_005867.3:p.Phe2759Ile
XM_005246237.2:c.7993T>A (SPEG)	XP_005246294.1:p.Phe2665Ile
XM_005246239.2:c.5899T>A (SPEG)	XP_005246296.1:p.Phe1967Ile
XM_005246240.2:c.5728T>A (SPEG)	XP_005246297.1:p.Phe1910Ile
XM_005246241.1:c.5728T>A (SPEG)	XP_005246298.1:p.Phe1910Ile
XM_005246242.3:c.5914T>A (SPEG)	XP_005246299.1:p.Phe1972Ile
XM_006712189.2:c.7963T>A (SPEG)	XP_006712252.1:p.Phe2655Ile
XM_006712193.2:c.5728T>A (SPEG)	XP_006712256.1:p.Phe1910Ile
XM_011510479.1:c.8305T>A (SPEG)	XP_011508781.1:p.Phe2769Ile
XM_011510480.1:c.8137T>A (SPEG)	XP_011508782.1:p.Phe2713Ile
XM_011510481.1:c.8128T>A (SPEG)	XP_011508783.1:p.Phe2710Ile
XM_011510482.1:c.8122T>A (SPEG)	XP_011508784.1:p.Phe2708Ile
XM_011510483.1:c.8044T>A (SPEG)	XP_011508785.1:p.Phe2682Ile
XM_011510484.1:c.7960T>A (SPEG)	XP_011508786.1:p.Phe2654Ile
XR_923921.1:n.353-6770A>T (ASIC4-AS1)
XM_005246242.4:c.5914T>A (SPEG)	XP_005246299.1:p.Phe1972Ile
XM_006712189.3:c.7963T>A (SPEG)	XP_006712252.1:p.Phe2655Ile
XM_006712193.3:c.5728T>A (SPEG)	XP_006712256.1:p.Phe1910Ile
XM_011510479.2:c.8305T>A (SPEG)	XP_011508781.1:p.Phe2769Ile
XM_011510483.2:c.8023T>A (SPEG)	XP_011508785.2:p.Phe2675Ile
XM_017003157.1:c.8023T>A (SPEG)	XP_016858646.1:p.Phe2675Ile
XM_017003158.2:c.5728T>A (SPEG)	XP_016858647.1:p.Phe1910Ile
XM_017003160.1:c.3283T>A (SPEG)	XP_016858649.1:p.Phe1095Ile
XR_923921.2:n.392-6770A>T (ASIC4-AS1)
NM_005876.5:c.8275T>A (SPEG) MANE Select	NP_005867.3:p.Phe2759Ile