Canonical Allele Identifier: CA431431263
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.220353795T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489073T>C , CM000664.2:g.219489073T>C GRCh38
NC_000002.11:g.220353795T>C , CM000664.1:g.220353795T>C GRCh37
NC_000002.10:g.220062039T>C NCBI36
NG_051022.1:g.59859T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8169T>C (SPEG) MANE Select ENSP00000311684.7:p.Pro2723=
ENST00000312358.11:c.8169T>C (SPEG) ENSP00000311684.7:p.Pro2723=
ENST00000485813.5:n.7412T>C (SPEG)
NM_005876.4:c.8169T>C (SPEG) NP_005867.3:p.Pro2723=
XM_005246237.2:c.7887T>C (SPEG) XP_005246294.1:p.Pro2629=
XM_005246239.2:c.5793T>C (SPEG) XP_005246296.1:p.Pro1931=
XM_005246240.2:c.5622T>C (SPEG) XP_005246297.1:p.Pro1874=
XM_005246241.1:c.5622T>C (SPEG) XP_005246298.1:p.Pro1874=
XM_005246242.3:c.5808T>C (SPEG) XP_005246299.1:p.Pro1936=
XM_006712189.2:c.7857T>C (SPEG) XP_006712252.1:p.Pro2619=
XM_006712193.2:c.5622T>C (SPEG) XP_006712256.1:p.Pro1874=
XM_011510479.1:c.8199T>C (SPEG) XP_011508781.1:p.Pro2733=
XM_011510480.1:c.8031T>C (SPEG) XP_011508782.1:p.Pro2677=
XM_011510481.1:c.8022T>C (SPEG) XP_011508783.1:p.Pro2674=
XM_011510482.1:c.8016T>C (SPEG) XP_011508784.1:p.Pro2672=
XM_011510483.1:c.7938T>C (SPEG) XP_011508785.1:p.Pro2646=
XM_011510484.1:c.7854T>C (SPEG) XP_011508786.1:p.Pro2618=
XR_923921.1:n.353-6664A>G (ASIC4-AS1)
XM_005246242.4:c.5808T>C (SPEG) XP_005246299.1:p.Pro1936=
XM_006712189.3:c.7857T>C (SPEG) XP_006712252.1:p.Pro2619=
XM_006712193.3:c.5622T>C (SPEG) XP_006712256.1:p.Pro1874=
XM_011510479.2:c.8199T>C (SPEG) XP_011508781.1:p.Pro2733=
XM_011510483.2:c.7917T>C (SPEG) XP_011508785.2:p.Pro2639=
XM_017003157.1:c.7917T>C (SPEG) XP_016858646.1:p.Pro2639=
XM_017003158.2:c.5622T>C (SPEG) XP_016858647.1:p.Pro1874=
XM_017003160.1:c.3177T>C (SPEG) XP_016858649.1:p.Pro1059=
XR_923921.2:n.392-6664A>G (ASIC4-AS1)
NM_005876.5:c.8169T>C (SPEG) MANE Select NP_005867.3:p.Pro2723=