Canonical Allele Identifier: CA431431456
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.220353912T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489190T>A , CM000664.2:g.219489190T>A GRCh38
NC_000002.11:g.220353912T>A , CM000664.1:g.220353912T>A GRCh37
NC_000002.10:g.220062156T>A NCBI36
NG_051022.1:g.59976T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8286T>A (SPEG) MANE Select ENSP00000311684.7:p.Ser2762=
ENST00000312358.11:c.8286T>A (SPEG) ENSP00000311684.7:p.Ser2762=
ENST00000485813.5:n.7529T>A (SPEG)
NM_005876.4:c.8286T>A (SPEG) NP_005867.3:p.Ser2762=
XM_005246237.2:c.8004T>A (SPEG) XP_005246294.1:p.Ser2668=
XM_005246239.2:c.5910T>A (SPEG) XP_005246296.1:p.Ser1970=
XM_005246240.2:c.5739T>A (SPEG) XP_005246297.1:p.Ser1913=
XM_005246241.1:c.5739T>A (SPEG) XP_005246298.1:p.Ser1913=
XM_005246242.3:c.5925T>A (SPEG) XP_005246299.1:p.Ser1975=
XM_006712189.2:c.7974T>A (SPEG) XP_006712252.1:p.Ser2658=
XM_006712193.2:c.5739T>A (SPEG) XP_006712256.1:p.Ser1913=
XM_011510479.1:c.8316T>A (SPEG) XP_011508781.1:p.Ser2772=
XM_011510480.1:c.8148T>A (SPEG) XP_011508782.1:p.Ser2716=
XM_011510481.1:c.8139T>A (SPEG) XP_011508783.1:p.Ser2713=
XM_011510482.1:c.8133T>A (SPEG) XP_011508784.1:p.Ser2711=
XM_011510483.1:c.8055T>A (SPEG) XP_011508785.1:p.Ser2685=
XM_011510484.1:c.7971T>A (SPEG) XP_011508786.1:p.Ser2657=
XR_923921.1:n.353-6781A>T (ASIC4-AS1)
XM_005246242.4:c.5925T>A (SPEG) XP_005246299.1:p.Ser1975=
XM_006712189.3:c.7974T>A (SPEG) XP_006712252.1:p.Ser2658=
XM_006712193.3:c.5739T>A (SPEG) XP_006712256.1:p.Ser1913=
XM_011510479.2:c.8316T>A (SPEG) XP_011508781.1:p.Ser2772=
XM_011510483.2:c.8034T>A (SPEG) XP_011508785.2:p.Ser2678=
XM_017003157.1:c.8034T>A (SPEG) XP_016858646.1:p.Ser2678=
XM_017003158.2:c.5739T>A (SPEG) XP_016858647.1:p.Ser1913=
XM_017003160.1:c.3294T>A (SPEG) XP_016858649.1:p.Ser1098=
XR_923921.2:n.392-6781A>T (ASIC4-AS1)
NM_005876.5:c.8286T>A (SPEG) MANE Select NP_005867.3:p.Ser2762=