Canonical Allele Identifier: CA431431524
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.220353942A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489220A>G , CM000664.2:g.219489220A>G GRCh38
NC_000002.11:g.220353942A>G , CM000664.1:g.220353942A>G GRCh37
NC_000002.10:g.220062186A>G NCBI36
NG_051022.1:g.60006A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8316A>G (SPEG) MANE Select ENSP00000311684.7:p.Gln2772=
ENST00000312358.11:c.8316A>G (SPEG) ENSP00000311684.7:p.Gln2772=
ENST00000485813.5:n.7559A>G (SPEG)
NM_005876.4:c.8316A>G (SPEG) NP_005867.3:p.Gln2772=
XM_005246237.2:c.8034A>G (SPEG) XP_005246294.1:p.Gln2678=
XM_005246239.2:c.5940A>G (SPEG) XP_005246296.1:p.Gln1980=
XM_005246240.2:c.5769A>G (SPEG) XP_005246297.1:p.Gln1923=
XM_005246241.1:c.5769A>G (SPEG) XP_005246298.1:p.Gln1923=
XM_005246242.3:c.5955A>G (SPEG) XP_005246299.1:p.Gln1985=
XM_006712189.2:c.8004A>G (SPEG) XP_006712252.1:p.Gln2668=
XM_006712193.2:c.5769A>G (SPEG) XP_006712256.1:p.Gln1923=
XM_011510479.1:c.8346A>G (SPEG) XP_011508781.1:p.Gln2782=
XM_011510480.1:c.8178A>G (SPEG) XP_011508782.1:p.Gln2726=
XM_011510481.1:c.8169A>G (SPEG) XP_011508783.1:p.Gln2723=
XM_011510482.1:c.8163A>G (SPEG) XP_011508784.1:p.Gln2721=
XM_011510483.1:c.8085A>G (SPEG) XP_011508785.1:p.Gln2695=
XM_011510484.1:c.8001A>G (SPEG) XP_011508786.1:p.Gln2667=
XR_923921.1:n.353-6811T>C (ASIC4-AS1)
XM_005246242.4:c.5955A>G (SPEG) XP_005246299.1:p.Gln1985=
XM_006712189.3:c.8004A>G (SPEG) XP_006712252.1:p.Gln2668=
XM_006712193.3:c.5769A>G (SPEG) XP_006712256.1:p.Gln1923=
XM_011510479.2:c.8346A>G (SPEG) XP_011508781.1:p.Gln2782=
XM_011510483.2:c.8064A>G (SPEG) XP_011508785.2:p.Gln2688=
XM_017003157.1:c.8064A>G (SPEG) XP_016858646.1:p.Gln2688=
XM_017003158.2:c.5769A>G (SPEG) XP_016858647.1:p.Gln1923=
XM_017003160.1:c.3324A>G (SPEG) XP_016858649.1:p.Gln1108=
XR_923921.2:n.392-6811T>C (ASIC4-AS1)
NM_005876.5:c.8316A>G (SPEG) MANE Select NP_005867.3:p.Gln2772=