Canonical Allele Identifier: CA431431337

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs1693723451
• MyVariant Identifiers: chr2:g.220353831G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489109G>T , CM000664.2:g.219489109G>T	GRCh38
NC_000002.11:g.220353831G>T , CM000664.1:g.220353831G>T	GRCh37
NC_000002.10:g.220062075G>T	NCBI36
NG_051022.1:g.59895G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8205G>T (SPEG) MANE Select	ENSP00000311684.7:p.Val2735=
ENST00000312358.11:c.8205G>T (SPEG)	ENSP00000311684.7:p.Val2735=
ENST00000485813.5:n.7448G>T (SPEG)
NM_005876.4:c.8205G>T (SPEG)	NP_005867.3:p.Val2735=
XM_005246237.2:c.7923G>T (SPEG)	XP_005246294.1:p.Val2641=
XM_005246239.2:c.5829G>T (SPEG)	XP_005246296.1:p.Val1943=
XM_005246240.2:c.5658G>T (SPEG)	XP_005246297.1:p.Val1886=
XM_005246241.1:c.5658G>T (SPEG)	XP_005246298.1:p.Val1886=
XM_005246242.3:c.5844G>T (SPEG)	XP_005246299.1:p.Val1948=
XM_006712189.2:c.7893G>T (SPEG)	XP_006712252.1:p.Val2631=
XM_006712193.2:c.5658G>T (SPEG)	XP_006712256.1:p.Val1886=
XM_011510479.1:c.8235G>T (SPEG)	XP_011508781.1:p.Val2745=
XM_011510480.1:c.8067G>T (SPEG)	XP_011508782.1:p.Val2689=
XM_011510481.1:c.8058G>T (SPEG)	XP_011508783.1:p.Val2686=
XM_011510482.1:c.8052G>T (SPEG)	XP_011508784.1:p.Val2684=
XM_011510483.1:c.7974G>T (SPEG)	XP_011508785.1:p.Val2658=
XM_011510484.1:c.7890G>T (SPEG)	XP_011508786.1:p.Val2630=
XR_923921.1:n.353-6700C>A (ASIC4-AS1)
XM_005246242.4:c.5844G>T (SPEG)	XP_005246299.1:p.Val1948=
XM_006712189.3:c.7893G>T (SPEG)	XP_006712252.1:p.Val2631=
XM_006712193.3:c.5658G>T (SPEG)	XP_006712256.1:p.Val1886=
XM_011510479.2:c.8235G>T (SPEG)	XP_011508781.1:p.Val2745=
XM_011510483.2:c.7953G>T (SPEG)	XP_011508785.2:p.Val2651=
XM_017003157.1:c.7953G>T (SPEG)	XP_016858646.1:p.Val2651=
XM_017003158.2:c.5658G>T (SPEG)	XP_016858647.1:p.Val1886=
XM_017003160.1:c.3213G>T (SPEG)	XP_016858649.1:p.Val1071=
XR_923921.2:n.392-6700C>A (ASIC4-AS1)
NM_005876.5:c.8205G>T (SPEG) MANE Select	NP_005867.3:p.Val2735=