Canonical Allele Identifier: CA431431506

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353931A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489209A>C , CM000664.2:g.219489209A>C	GRCh38
NC_000002.11:g.220353931A>C , CM000664.1:g.220353931A>C	GRCh37
NC_000002.10:g.220062175A>C	NCBI36
NG_051022.1:g.59995A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8305A>C (SPEG) MANE Select	ENSP00000311684.7:p.Arg2769=
ENST00000312358.11:c.8305A>C (SPEG)	ENSP00000311684.7:p.Arg2769=
ENST00000485813.5:n.7548A>C (SPEG)
NM_005876.4:c.8305A>C (SPEG)	NP_005867.3:p.Arg2769=
XM_005246237.2:c.8023A>C (SPEG)	XP_005246294.1:p.Arg2675=
XM_005246239.2:c.5929A>C (SPEG)	XP_005246296.1:p.Arg1977=
XM_005246240.2:c.5758A>C (SPEG)	XP_005246297.1:p.Arg1920=
XM_005246241.1:c.5758A>C (SPEG)	XP_005246298.1:p.Arg1920=
XM_005246242.3:c.5944A>C (SPEG)	XP_005246299.1:p.Arg1982=
XM_006712189.2:c.7993A>C (SPEG)	XP_006712252.1:p.Arg2665=
XM_006712193.2:c.5758A>C (SPEG)	XP_006712256.1:p.Arg1920=
XM_011510479.1:c.8335A>C (SPEG)	XP_011508781.1:p.Arg2779=
XM_011510480.1:c.8167A>C (SPEG)	XP_011508782.1:p.Arg2723=
XM_011510481.1:c.8158A>C (SPEG)	XP_011508783.1:p.Arg2720=
XM_011510482.1:c.8152A>C (SPEG)	XP_011508784.1:p.Arg2718=
XM_011510483.1:c.8074A>C (SPEG)	XP_011508785.1:p.Arg2692=
XM_011510484.1:c.7990A>C (SPEG)	XP_011508786.1:p.Arg2664=
XR_923921.1:n.353-6800T>G (ASIC4-AS1)
XM_005246242.4:c.5944A>C (SPEG)	XP_005246299.1:p.Arg1982=
XM_006712189.3:c.7993A>C (SPEG)	XP_006712252.1:p.Arg2665=
XM_006712193.3:c.5758A>C (SPEG)	XP_006712256.1:p.Arg1920=
XM_011510479.2:c.8335A>C (SPEG)	XP_011508781.1:p.Arg2779=
XM_011510483.2:c.8053A>C (SPEG)	XP_011508785.2:p.Arg2685=
XM_017003157.1:c.8053A>C (SPEG)	XP_016858646.1:p.Arg2685=
XM_017003158.2:c.5758A>C (SPEG)	XP_016858647.1:p.Arg1920=
XM_017003160.1:c.3313A>C (SPEG)	XP_016858649.1:p.Arg1105=
XR_923921.2:n.392-6800T>G (ASIC4-AS1)
NM_005876.5:c.8305A>C (SPEG) MANE Select	NP_005867.3:p.Arg2769=