Canonical Allele Identifier: CA350708815

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353919A>C (hg19) ; chr2:g.219489197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489197A>C , CM000664.2:g.219489197A>C	GRCh38
NC_000002.11:g.220353919A>C , CM000664.1:g.220353919A>C	GRCh37
NC_000002.10:g.220062163A>C	NCBI36
NG_051022.1:g.59983A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8293A>C (SPEG) MANE Select	ENSP00000311684.7:p.Lys2765Gln
ENST00000312358.11:c.8293A>C (SPEG)	ENSP00000311684.7:p.Lys2765Gln
ENST00000485813.5:n.7536A>C (SPEG)
NM_005876.4:c.8293A>C (SPEG)	NP_005867.3:p.Lys2765Gln
XM_005246237.2:c.8011A>C (SPEG)	XP_005246294.1:p.Lys2671Gln
XM_005246239.2:c.5917A>C (SPEG)	XP_005246296.1:p.Lys1973Gln
XM_005246240.2:c.5746A>C (SPEG)	XP_005246297.1:p.Lys1916Gln
XM_005246241.1:c.5746A>C (SPEG)	XP_005246298.1:p.Lys1916Gln
XM_005246242.3:c.5932A>C (SPEG)	XP_005246299.1:p.Lys1978Gln
XM_006712189.2:c.7981A>C (SPEG)	XP_006712252.1:p.Lys2661Gln
XM_006712193.2:c.5746A>C (SPEG)	XP_006712256.1:p.Lys1916Gln
XM_011510479.1:c.8323A>C (SPEG)	XP_011508781.1:p.Lys2775Gln
XM_011510480.1:c.8155A>C (SPEG)	XP_011508782.1:p.Lys2719Gln
XM_011510481.1:c.8146A>C (SPEG)	XP_011508783.1:p.Lys2716Gln
XM_011510482.1:c.8140A>C (SPEG)	XP_011508784.1:p.Lys2714Gln
XM_011510483.1:c.8062A>C (SPEG)	XP_011508785.1:p.Lys2688Gln
XM_011510484.1:c.7978A>C (SPEG)	XP_011508786.1:p.Lys2660Gln
XR_923921.1:n.353-6788T>G (ASIC4-AS1)
XM_005246242.4:c.5932A>C (SPEG)	XP_005246299.1:p.Lys1978Gln
XM_006712189.3:c.7981A>C (SPEG)	XP_006712252.1:p.Lys2661Gln
XM_006712193.3:c.5746A>C (SPEG)	XP_006712256.1:p.Lys1916Gln
XM_011510479.2:c.8323A>C (SPEG)	XP_011508781.1:p.Lys2775Gln
XM_011510483.2:c.8041A>C (SPEG)	XP_011508785.2:p.Lys2681Gln
XM_017003157.1:c.8041A>C (SPEG)	XP_016858646.1:p.Lys2681Gln
XM_017003158.2:c.5746A>C (SPEG)	XP_016858647.1:p.Lys1916Gln
XM_017003160.1:c.3301A>C (SPEG)	XP_016858649.1:p.Lys1101Gln
XR_923921.2:n.392-6788T>G (ASIC4-AS1)
NM_005876.5:c.8293A>C (SPEG) MANE Select	NP_005867.3:p.Lys2765Gln