Canonical Allele Identifier: CA350708807

Gene: SPEG ASIC4-AS1

Linked Data

• gnomAD v4: 2-219489192-C-T
• MyVariant Identifiers: chr2:g.220353914C>T (hg19) ; chr2:g.219489192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489192C>T , CM000664.2:g.219489192C>T	GRCh38
NC_000002.11:g.220353914C>T , CM000664.1:g.220353914C>T	GRCh37
NC_000002.10:g.220062158C>T	NCBI36
NG_051022.1:g.59978C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8288C>T (SPEG) MANE Select	ENSP00000311684.7:p.Ser2763Phe
ENST00000312358.11:c.8288C>T (SPEG)	ENSP00000311684.7:p.Ser2763Phe
ENST00000485813.5:n.7531C>T (SPEG)
NM_005876.4:c.8288C>T (SPEG)	NP_005867.3:p.Ser2763Phe
XM_005246237.2:c.8006C>T (SPEG)	XP_005246294.1:p.Ser2669Phe
XM_005246239.2:c.5912C>T (SPEG)	XP_005246296.1:p.Ser1971Phe
XM_005246240.2:c.5741C>T (SPEG)	XP_005246297.1:p.Ser1914Phe
XM_005246241.1:c.5741C>T (SPEG)	XP_005246298.1:p.Ser1914Phe
XM_005246242.3:c.5927C>T (SPEG)	XP_005246299.1:p.Ser1976Phe
XM_006712189.2:c.7976C>T (SPEG)	XP_006712252.1:p.Ser2659Phe
XM_006712193.2:c.5741C>T (SPEG)	XP_006712256.1:p.Ser1914Phe
XM_011510479.1:c.8318C>T (SPEG)	XP_011508781.1:p.Ser2773Phe
XM_011510480.1:c.8150C>T (SPEG)	XP_011508782.1:p.Ser2717Phe
XM_011510481.1:c.8141C>T (SPEG)	XP_011508783.1:p.Ser2714Phe
XM_011510482.1:c.8135C>T (SPEG)	XP_011508784.1:p.Ser2712Phe
XM_011510483.1:c.8057C>T (SPEG)	XP_011508785.1:p.Ser2686Phe
XM_011510484.1:c.7973C>T (SPEG)	XP_011508786.1:p.Ser2658Phe
XR_923921.1:n.353-6783G>A (ASIC4-AS1)
XM_005246242.4:c.5927C>T (SPEG)	XP_005246299.1:p.Ser1976Phe
XM_006712189.3:c.7976C>T (SPEG)	XP_006712252.1:p.Ser2659Phe
XM_006712193.3:c.5741C>T (SPEG)	XP_006712256.1:p.Ser1914Phe
XM_011510479.2:c.8318C>T (SPEG)	XP_011508781.1:p.Ser2773Phe
XM_011510483.2:c.8036C>T (SPEG)	XP_011508785.2:p.Ser2679Phe
XM_017003157.1:c.8036C>T (SPEG)	XP_016858646.1:p.Ser2679Phe
XM_017003158.2:c.5741C>T (SPEG)	XP_016858647.1:p.Ser1914Phe
XM_017003160.1:c.3296C>T (SPEG)	XP_016858649.1:p.Ser1099Phe
XR_923921.2:n.392-6783G>A (ASIC4-AS1)
NM_005876.5:c.8288C>T (SPEG) MANE Select	NP_005867.3:p.Ser2763Phe