Canonical Allele Identifier: CA350708849

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353933G>T (hg19) ; chr2:g.219489211G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489211G>T , CM000664.2:g.219489211G>T	GRCh38
NC_000002.11:g.220353933G>T , CM000664.1:g.220353933G>T	GRCh37
NC_000002.10:g.220062177G>T	NCBI36
NG_051022.1:g.59997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8307G>T (SPEG) MANE Select	ENSP00000311684.7:p.Arg2769Ser
ENST00000312358.11:c.8307G>T (SPEG)	ENSP00000311684.7:p.Arg2769Ser
ENST00000485813.5:n.7550G>T (SPEG)
NM_005876.4:c.8307G>T (SPEG)	NP_005867.3:p.Arg2769Ser
XM_005246237.2:c.8025G>T (SPEG)	XP_005246294.1:p.Arg2675Ser
XM_005246239.2:c.5931G>T (SPEG)	XP_005246296.1:p.Arg1977Ser
XM_005246240.2:c.5760G>T (SPEG)	XP_005246297.1:p.Arg1920Ser
XM_005246241.1:c.5760G>T (SPEG)	XP_005246298.1:p.Arg1920Ser
XM_005246242.3:c.5946G>T (SPEG)	XP_005246299.1:p.Arg1982Ser
XM_006712189.2:c.7995G>T (SPEG)	XP_006712252.1:p.Arg2665Ser
XM_006712193.2:c.5760G>T (SPEG)	XP_006712256.1:p.Arg1920Ser
XM_011510479.1:c.8337G>T (SPEG)	XP_011508781.1:p.Arg2779Ser
XM_011510480.1:c.8169G>T (SPEG)	XP_011508782.1:p.Arg2723Ser
XM_011510481.1:c.8160G>T (SPEG)	XP_011508783.1:p.Arg2720Ser
XM_011510482.1:c.8154G>T (SPEG)	XP_011508784.1:p.Arg2718Ser
XM_011510483.1:c.8076G>T (SPEG)	XP_011508785.1:p.Arg2692Ser
XM_011510484.1:c.7992G>T (SPEG)	XP_011508786.1:p.Arg2664Ser
XR_923921.1:n.353-6802C>A (ASIC4-AS1)
XM_005246242.4:c.5946G>T (SPEG)	XP_005246299.1:p.Arg1982Ser
XM_006712189.3:c.7995G>T (SPEG)	XP_006712252.1:p.Arg2665Ser
XM_006712193.3:c.5760G>T (SPEG)	XP_006712256.1:p.Arg1920Ser
XM_011510479.2:c.8337G>T (SPEG)	XP_011508781.1:p.Arg2779Ser
XM_011510483.2:c.8055G>T (SPEG)	XP_011508785.2:p.Arg2685Ser
XM_017003157.1:c.8055G>T (SPEG)	XP_016858646.1:p.Arg2685Ser
XM_017003158.2:c.5760G>T (SPEG)	XP_016858647.1:p.Arg1920Ser
XM_017003160.1:c.3315G>T (SPEG)	XP_016858649.1:p.Arg1105Ser
XR_923921.2:n.392-6802C>A (ASIC4-AS1)
NM_005876.5:c.8307G>T (SPEG) MANE Select	NP_005867.3:p.Arg2769Ser