Canonical Allele Identifier: CA350708783

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353904A>T (hg19) ; chr2:g.219489182A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489182A>T , CM000664.2:g.219489182A>T	GRCh38
NC_000002.11:g.220353904A>T , CM000664.1:g.220353904A>T	GRCh37
NC_000002.10:g.220062148A>T	NCBI36
NG_051022.1:g.59968A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8278A>T (SPEG) MANE Select	ENSP00000311684.7:p.Ser2760Cys
ENST00000312358.11:c.8278A>T (SPEG)	ENSP00000311684.7:p.Ser2760Cys
ENST00000485813.5:n.7521A>T (SPEG)
NM_005876.4:c.8278A>T (SPEG)	NP_005867.3:p.Ser2760Cys
XM_005246237.2:c.7996A>T (SPEG)	XP_005246294.1:p.Ser2666Cys
XM_005246239.2:c.5902A>T (SPEG)	XP_005246296.1:p.Ser1968Cys
XM_005246240.2:c.5731A>T (SPEG)	XP_005246297.1:p.Ser1911Cys
XM_005246241.1:c.5731A>T (SPEG)	XP_005246298.1:p.Ser1911Cys
XM_005246242.3:c.5917A>T (SPEG)	XP_005246299.1:p.Ser1973Cys
XM_006712189.2:c.7966A>T (SPEG)	XP_006712252.1:p.Ser2656Cys
XM_006712193.2:c.5731A>T (SPEG)	XP_006712256.1:p.Ser1911Cys
XM_011510479.1:c.8308A>T (SPEG)	XP_011508781.1:p.Ser2770Cys
XM_011510480.1:c.8140A>T (SPEG)	XP_011508782.1:p.Ser2714Cys
XM_011510481.1:c.8131A>T (SPEG)	XP_011508783.1:p.Ser2711Cys
XM_011510482.1:c.8125A>T (SPEG)	XP_011508784.1:p.Ser2709Cys
XM_011510483.1:c.8047A>T (SPEG)	XP_011508785.1:p.Ser2683Cys
XM_011510484.1:c.7963A>T (SPEG)	XP_011508786.1:p.Ser2655Cys
XR_923921.1:n.353-6773T>A (ASIC4-AS1)
XM_005246242.4:c.5917A>T (SPEG)	XP_005246299.1:p.Ser1973Cys
XM_006712189.3:c.7966A>T (SPEG)	XP_006712252.1:p.Ser2656Cys
XM_006712193.3:c.5731A>T (SPEG)	XP_006712256.1:p.Ser1911Cys
XM_011510479.2:c.8308A>T (SPEG)	XP_011508781.1:p.Ser2770Cys
XM_011510483.2:c.8026A>T (SPEG)	XP_011508785.2:p.Ser2676Cys
XM_017003157.1:c.8026A>T (SPEG)	XP_016858646.1:p.Ser2676Cys
XM_017003158.2:c.5731A>T (SPEG)	XP_016858647.1:p.Ser1911Cys
XM_017003160.1:c.3286A>T (SPEG)	XP_016858649.1:p.Ser1096Cys
XR_923921.2:n.392-6773T>A (ASIC4-AS1)
NM_005876.5:c.8278A>T (SPEG) MANE Select	NP_005867.3:p.Ser2760Cys