Canonical Allele Identifier: CA431431379
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.220353843A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489121A>T , CM000664.2:g.219489121A>T GRCh38
NC_000002.11:g.220353843A>T , CM000664.1:g.220353843A>T GRCh37
NC_000002.10:g.220062087A>T NCBI36
NG_051022.1:g.59907A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8217A>T (SPEG) MANE Select ENSP00000311684.7:p.Pro2739=
ENST00000312358.11:c.8217A>T (SPEG) ENSP00000311684.7:p.Pro2739=
ENST00000485813.5:n.7460A>T (SPEG)
NM_005876.4:c.8217A>T (SPEG) NP_005867.3:p.Pro2739=
XM_005246237.2:c.7935A>T (SPEG) XP_005246294.1:p.Pro2645=
XM_005246239.2:c.5841A>T (SPEG) XP_005246296.1:p.Pro1947=
XM_005246240.2:c.5670A>T (SPEG) XP_005246297.1:p.Pro1890=
XM_005246241.1:c.5670A>T (SPEG) XP_005246298.1:p.Pro1890=
XM_005246242.3:c.5856A>T (SPEG) XP_005246299.1:p.Pro1952=
XM_006712189.2:c.7905A>T (SPEG) XP_006712252.1:p.Pro2635=
XM_006712193.2:c.5670A>T (SPEG) XP_006712256.1:p.Pro1890=
XM_011510479.1:c.8247A>T (SPEG) XP_011508781.1:p.Pro2749=
XM_011510480.1:c.8079A>T (SPEG) XP_011508782.1:p.Pro2693=
XM_011510481.1:c.8070A>T (SPEG) XP_011508783.1:p.Pro2690=
XM_011510482.1:c.8064A>T (SPEG) XP_011508784.1:p.Pro2688=
XM_011510483.1:c.7986A>T (SPEG) XP_011508785.1:p.Pro2662=
XM_011510484.1:c.7902A>T (SPEG) XP_011508786.1:p.Pro2634=
XR_923921.1:n.353-6712T>A (ASIC4-AS1)
XM_005246242.4:c.5856A>T (SPEG) XP_005246299.1:p.Pro1952=
XM_006712189.3:c.7905A>T (SPEG) XP_006712252.1:p.Pro2635=
XM_006712193.3:c.5670A>T (SPEG) XP_006712256.1:p.Pro1890=
XM_011510479.2:c.8247A>T (SPEG) XP_011508781.1:p.Pro2749=
XM_011510483.2:c.7965A>T (SPEG) XP_011508785.2:p.Pro2655=
XM_017003157.1:c.7965A>T (SPEG) XP_016858646.1:p.Pro2655=
XM_017003158.2:c.5670A>T (SPEG) XP_016858647.1:p.Pro1890=
XM_017003160.1:c.3225A>T (SPEG) XP_016858649.1:p.Pro1075=
XR_923921.2:n.392-6712T>A (ASIC4-AS1)
NM_005876.5:c.8217A>T (SPEG) MANE Select NP_005867.3:p.Pro2739=