Canonical Allele Identifier: CA431431349
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.220353834C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489112C>T , CM000664.2:g.219489112C>T GRCh38
NC_000002.11:g.220353834C>T , CM000664.1:g.220353834C>T GRCh37
NC_000002.10:g.220062078C>T NCBI36
NG_051022.1:g.59898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8208C>T (SPEG) MANE Select ENSP00000311684.7:p.Thr2736=
ENST00000312358.11:c.8208C>T (SPEG) ENSP00000311684.7:p.Thr2736=
ENST00000485813.5:n.7451C>T (SPEG)
NM_005876.4:c.8208C>T (SPEG) NP_005867.3:p.Thr2736=
XM_005246237.2:c.7926C>T (SPEG) XP_005246294.1:p.Thr2642=
XM_005246239.2:c.5832C>T (SPEG) XP_005246296.1:p.Thr1944=
XM_005246240.2:c.5661C>T (SPEG) XP_005246297.1:p.Thr1887=
XM_005246241.1:c.5661C>T (SPEG) XP_005246298.1:p.Thr1887=
XM_005246242.3:c.5847C>T (SPEG) XP_005246299.1:p.Thr1949=
XM_006712189.2:c.7896C>T (SPEG) XP_006712252.1:p.Thr2632=
XM_006712193.2:c.5661C>T (SPEG) XP_006712256.1:p.Thr1887=
XM_011510479.1:c.8238C>T (SPEG) XP_011508781.1:p.Thr2746=
XM_011510480.1:c.8070C>T (SPEG) XP_011508782.1:p.Thr2690=
XM_011510481.1:c.8061C>T (SPEG) XP_011508783.1:p.Thr2687=
XM_011510482.1:c.8055C>T (SPEG) XP_011508784.1:p.Thr2685=
XM_011510483.1:c.7977C>T (SPEG) XP_011508785.1:p.Thr2659=
XM_011510484.1:c.7893C>T (SPEG) XP_011508786.1:p.Thr2631=
XR_923921.1:n.353-6703G>A (ASIC4-AS1)
XM_005246242.4:c.5847C>T (SPEG) XP_005246299.1:p.Thr1949=
XM_006712189.3:c.7896C>T (SPEG) XP_006712252.1:p.Thr2632=
XM_006712193.3:c.5661C>T (SPEG) XP_006712256.1:p.Thr1887=
XM_011510479.2:c.8238C>T (SPEG) XP_011508781.1:p.Thr2746=
XM_011510483.2:c.7956C>T (SPEG) XP_011508785.2:p.Thr2652=
XM_017003157.1:c.7956C>T (SPEG) XP_016858646.1:p.Thr2652=
XM_017003158.2:c.5661C>T (SPEG) XP_016858647.1:p.Thr1887=
XM_017003160.1:c.3216C>T (SPEG) XP_016858649.1:p.Thr1072=
XR_923921.2:n.392-6703G>A (ASIC4-AS1)
NM_005876.5:c.8208C>T (SPEG) MANE Select NP_005867.3:p.Thr2736=