Canonical Allele Identifier: CA2127441

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs775563227
• ExAC: 2:220353916 G / C
• gnomAD v2: 2-220353916-G-C
• gnomAD v4: 2-219489194-G-C
• MyVariant Identifiers: chr2:g.220353916G>C (hg19) ; chr2:g.219489194G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489194G>C , CM000664.2:g.219489194G>C	GRCh38
NC_000002.11:g.220353916G>C , CM000664.1:g.220353916G>C	GRCh37
NC_000002.10:g.220062160G>C	NCBI36
NG_051022.1:g.59980G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8290G>C (SPEG) MANE Select	ENSP00000311684.7:p.Glu2764Gln
ENST00000312358.11:c.8290G>C (SPEG)	ENSP00000311684.7:p.Glu2764Gln
ENST00000485813.5:n.7533G>C (SPEG)
NM_005876.4:c.8290G>C (SPEG)	NP_005867.3:p.Glu2764Gln
XM_005246237.2:c.8008G>C (SPEG)	XP_005246294.1:p.Glu2670Gln
XM_005246239.2:c.5914G>C (SPEG)	XP_005246296.1:p.Glu1972Gln
XM_005246240.2:c.5743G>C (SPEG)	XP_005246297.1:p.Glu1915Gln
XM_005246241.1:c.5743G>C (SPEG)	XP_005246298.1:p.Glu1915Gln
XM_005246242.3:c.5929G>C (SPEG)	XP_005246299.1:p.Glu1977Gln
XM_006712189.2:c.7978G>C (SPEG)	XP_006712252.1:p.Glu2660Gln
XM_006712193.2:c.5743G>C (SPEG)	XP_006712256.1:p.Glu1915Gln
XM_011510479.1:c.8320G>C (SPEG)	XP_011508781.1:p.Glu2774Gln
XM_011510480.1:c.8152G>C (SPEG)	XP_011508782.1:p.Glu2718Gln
XM_011510481.1:c.8143G>C (SPEG)	XP_011508783.1:p.Glu2715Gln
XM_011510482.1:c.8137G>C (SPEG)	XP_011508784.1:p.Glu2713Gln
XM_011510483.1:c.8059G>C (SPEG)	XP_011508785.1:p.Glu2687Gln
XM_011510484.1:c.7975G>C (SPEG)	XP_011508786.1:p.Glu2659Gln
XR_923921.1:n.353-6785C>G (ASIC4-AS1)
XM_005246242.4:c.5929G>C (SPEG)	XP_005246299.1:p.Glu1977Gln
XM_006712189.3:c.7978G>C (SPEG)	XP_006712252.1:p.Glu2660Gln
XM_006712193.3:c.5743G>C (SPEG)	XP_006712256.1:p.Glu1915Gln
XM_011510479.2:c.8320G>C (SPEG)	XP_011508781.1:p.Glu2774Gln
XM_011510483.2:c.8038G>C (SPEG)	XP_011508785.2:p.Glu2680Gln
XM_017003157.1:c.8038G>C (SPEG)	XP_016858646.1:p.Glu2680Gln
XM_017003158.2:c.5743G>C (SPEG)	XP_016858647.1:p.Glu1915Gln
XM_017003160.1:c.3298G>C (SPEG)	XP_016858649.1:p.Glu1100Gln
XR_923921.2:n.392-6785C>G (ASIC4-AS1)
NM_005876.5:c.8290G>C (SPEG) MANE Select	NP_005867.3:p.Glu2764Gln