Canonical Allele Identifier: CA350708837

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs1325361826
• gnomAD v2: 2-220353928-G-A
• gnomAD v4: 2-219489206-G-A
• MyVariant Identifiers: chr2:g.220353928G>A (hg19) ; chr2:g.219489206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489206G>A , CM000664.2:g.219489206G>A	GRCh38
NC_000002.11:g.220353928G>A , CM000664.1:g.220353928G>A	GRCh37
NC_000002.10:g.220062172G>A	NCBI36
NG_051022.1:g.59992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8302G>A (SPEG) MANE Select	ENSP00000311684.7:p.Val2768Ile
ENST00000312358.11:c.8302G>A (SPEG)	ENSP00000311684.7:p.Val2768Ile
ENST00000485813.5:n.7545G>A (SPEG)
NM_005876.4:c.8302G>A (SPEG)	NP_005867.3:p.Val2768Ile
XM_005246237.2:c.8020G>A (SPEG)	XP_005246294.1:p.Val2674Ile
XM_005246239.2:c.5926G>A (SPEG)	XP_005246296.1:p.Val1976Ile
XM_005246240.2:c.5755G>A (SPEG)	XP_005246297.1:p.Val1919Ile
XM_005246241.1:c.5755G>A (SPEG)	XP_005246298.1:p.Val1919Ile
XM_005246242.3:c.5941G>A (SPEG)	XP_005246299.1:p.Val1981Ile
XM_006712189.2:c.7990G>A (SPEG)	XP_006712252.1:p.Val2664Ile
XM_006712193.2:c.5755G>A (SPEG)	XP_006712256.1:p.Val1919Ile
XM_011510479.1:c.8332G>A (SPEG)	XP_011508781.1:p.Val2778Ile
XM_011510480.1:c.8164G>A (SPEG)	XP_011508782.1:p.Val2722Ile
XM_011510481.1:c.8155G>A (SPEG)	XP_011508783.1:p.Val2719Ile
XM_011510482.1:c.8149G>A (SPEG)	XP_011508784.1:p.Val2717Ile
XM_011510483.1:c.8071G>A (SPEG)	XP_011508785.1:p.Val2691Ile
XM_011510484.1:c.7987G>A (SPEG)	XP_011508786.1:p.Val2663Ile
XR_923921.1:n.353-6797C>T (ASIC4-AS1)
XM_005246242.4:c.5941G>A (SPEG)	XP_005246299.1:p.Val1981Ile
XM_006712189.3:c.7990G>A (SPEG)	XP_006712252.1:p.Val2664Ile
XM_006712193.3:c.5755G>A (SPEG)	XP_006712256.1:p.Val1919Ile
XM_011510479.2:c.8332G>A (SPEG)	XP_011508781.1:p.Val2778Ile
XM_011510483.2:c.8050G>A (SPEG)	XP_011508785.2:p.Val2684Ile
XM_017003157.1:c.8050G>A (SPEG)	XP_016858646.1:p.Val2684Ile
XM_017003158.2:c.5755G>A (SPEG)	XP_016858647.1:p.Val1919Ile
XM_017003160.1:c.3310G>A (SPEG)	XP_016858649.1:p.Val1104Ile
XR_923921.2:n.392-6797C>T (ASIC4-AS1)
NM_005876.5:c.8302G>A (SPEG) MANE Select	NP_005867.3:p.Val2768Ile