Canonical Allele Identifier: CA350708829

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353925T>C (hg19) ; chr2:g.219489203T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489203T>C , CM000664.2:g.219489203T>C	GRCh38
NC_000002.11:g.220353925T>C , CM000664.1:g.220353925T>C	GRCh37
NC_000002.10:g.220062169T>C	NCBI36
NG_051022.1:g.59989T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8299T>C (SPEG) MANE Select	ENSP00000311684.7:p.Phe2767Leu
ENST00000312358.11:c.8299T>C (SPEG)	ENSP00000311684.7:p.Phe2767Leu
ENST00000485813.5:n.7542T>C (SPEG)
NM_005876.4:c.8299T>C (SPEG)	NP_005867.3:p.Phe2767Leu
XM_005246237.2:c.8017T>C (SPEG)	XP_005246294.1:p.Phe2673Leu
XM_005246239.2:c.5923T>C (SPEG)	XP_005246296.1:p.Phe1975Leu
XM_005246240.2:c.5752T>C (SPEG)	XP_005246297.1:p.Phe1918Leu
XM_005246241.1:c.5752T>C (SPEG)	XP_005246298.1:p.Phe1918Leu
XM_005246242.3:c.5938T>C (SPEG)	XP_005246299.1:p.Phe1980Leu
XM_006712189.2:c.7987T>C (SPEG)	XP_006712252.1:p.Phe2663Leu
XM_006712193.2:c.5752T>C (SPEG)	XP_006712256.1:p.Phe1918Leu
XM_011510479.1:c.8329T>C (SPEG)	XP_011508781.1:p.Phe2777Leu
XM_011510480.1:c.8161T>C (SPEG)	XP_011508782.1:p.Phe2721Leu
XM_011510481.1:c.8152T>C (SPEG)	XP_011508783.1:p.Phe2718Leu
XM_011510482.1:c.8146T>C (SPEG)	XP_011508784.1:p.Phe2716Leu
XM_011510483.1:c.8068T>C (SPEG)	XP_011508785.1:p.Phe2690Leu
XM_011510484.1:c.7984T>C (SPEG)	XP_011508786.1:p.Phe2662Leu
XR_923921.1:n.353-6794A>G (ASIC4-AS1)
XM_005246242.4:c.5938T>C (SPEG)	XP_005246299.1:p.Phe1980Leu
XM_006712189.3:c.7987T>C (SPEG)	XP_006712252.1:p.Phe2663Leu
XM_006712193.3:c.5752T>C (SPEG)	XP_006712256.1:p.Phe1918Leu
XM_011510479.2:c.8329T>C (SPEG)	XP_011508781.1:p.Phe2777Leu
XM_011510483.2:c.8047T>C (SPEG)	XP_011508785.2:p.Phe2683Leu
XM_017003157.1:c.8047T>C (SPEG)	XP_016858646.1:p.Phe2683Leu
XM_017003158.2:c.5752T>C (SPEG)	XP_016858647.1:p.Phe1918Leu
XM_017003160.1:c.3307T>C (SPEG)	XP_016858649.1:p.Phe1103Leu
XR_923921.2:n.392-6794A>G (ASIC4-AS1)
NM_005876.5:c.8299T>C (SPEG) MANE Select	NP_005867.3:p.Phe2767Leu