Canonical Allele Identifier: CA350708825

Gene: SPEG ASIC4-AS1

Linked Data

• ClinVar Variation Id: 1976904
• ClinVar RCV Id: RCV002736364
• MyVariant Identifiers: chr2:g.220353922G>T (hg19) ; chr2:g.219489200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489200G>T , CM000664.2:g.219489200G>T	GRCh38
NC_000002.11:g.220353922G>T , CM000664.1:g.220353922G>T	GRCh37
NC_000002.10:g.220062166G>T	NCBI36
NG_051022.1:g.59986G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8296G>T (SPEG) MANE Select	ENSP00000311684.7:p.Val2766Phe
ENST00000312358.11:c.8296G>T (SPEG)	ENSP00000311684.7:p.Val2766Phe
ENST00000485813.5:n.7539G>T (SPEG)
NM_005876.4:c.8296G>T (SPEG)	NP_005867.3:p.Val2766Phe
XM_005246237.2:c.8014G>T (SPEG)	XP_005246294.1:p.Val2672Phe
XM_005246239.2:c.5920G>T (SPEG)	XP_005246296.1:p.Val1974Phe
XM_005246240.2:c.5749G>T (SPEG)	XP_005246297.1:p.Val1917Phe
XM_005246241.1:c.5749G>T (SPEG)	XP_005246298.1:p.Val1917Phe
XM_005246242.3:c.5935G>T (SPEG)	XP_005246299.1:p.Val1979Phe
XM_006712189.2:c.7984G>T (SPEG)	XP_006712252.1:p.Val2662Phe
XM_006712193.2:c.5749G>T (SPEG)	XP_006712256.1:p.Val1917Phe
XM_011510479.1:c.8326G>T (SPEG)	XP_011508781.1:p.Val2776Phe
XM_011510480.1:c.8158G>T (SPEG)	XP_011508782.1:p.Val2720Phe
XM_011510481.1:c.8149G>T (SPEG)	XP_011508783.1:p.Val2717Phe
XM_011510482.1:c.8143G>T (SPEG)	XP_011508784.1:p.Val2715Phe
XM_011510483.1:c.8065G>T (SPEG)	XP_011508785.1:p.Val2689Phe
XM_011510484.1:c.7981G>T (SPEG)	XP_011508786.1:p.Val2661Phe
XR_923921.1:n.353-6791C>A (ASIC4-AS1)
XM_005246242.4:c.5935G>T (SPEG)	XP_005246299.1:p.Val1979Phe
XM_006712189.3:c.7984G>T (SPEG)	XP_006712252.1:p.Val2662Phe
XM_006712193.3:c.5749G>T (SPEG)	XP_006712256.1:p.Val1917Phe
XM_011510479.2:c.8326G>T (SPEG)	XP_011508781.1:p.Val2776Phe
XM_011510483.2:c.8044G>T (SPEG)	XP_011508785.2:p.Val2682Phe
XM_017003157.1:c.8044G>T (SPEG)	XP_016858646.1:p.Val2682Phe
XM_017003158.2:c.5749G>T (SPEG)	XP_016858647.1:p.Val1917Phe
XM_017003160.1:c.3304G>T (SPEG)	XP_016858649.1:p.Val1102Phe
XR_923921.2:n.392-6791C>A (ASIC4-AS1)
NM_005876.5:c.8296G>T (SPEG) MANE Select	NP_005867.3:p.Val2766Phe