Canonical Allele Identifier: CA350708772

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs745655345
• gnomAD v4: 2-219489177-C-G
• MyVariant Identifiers: chr2:g.220353899C>G (hg19) ; chr2:g.219489177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489177C>G , CM000664.2:g.219489177C>G	GRCh38
NC_000002.11:g.220353899C>G , CM000664.1:g.220353899C>G	GRCh37
NC_000002.10:g.220062143C>G	NCBI36
NG_051022.1:g.59963C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8273C>G (SPEG) MANE Select	ENSP00000311684.7:p.Pro2758Arg
ENST00000312358.11:c.8273C>G (SPEG)	ENSP00000311684.7:p.Pro2758Arg
ENST00000485813.5:n.7516C>G (SPEG)
NM_005876.4:c.8273C>G (SPEG)	NP_005867.3:p.Pro2758Arg
XM_005246237.2:c.7991C>G (SPEG)	XP_005246294.1:p.Pro2664Arg
XM_005246239.2:c.5897C>G (SPEG)	XP_005246296.1:p.Pro1966Arg
XM_005246240.2:c.5726C>G (SPEG)	XP_005246297.1:p.Pro1909Arg
XM_005246241.1:c.5726C>G (SPEG)	XP_005246298.1:p.Pro1909Arg
XM_005246242.3:c.5912C>G (SPEG)	XP_005246299.1:p.Pro1971Arg
XM_006712189.2:c.7961C>G (SPEG)	XP_006712252.1:p.Pro2654Arg
XM_006712193.2:c.5726C>G (SPEG)	XP_006712256.1:p.Pro1909Arg
XM_011510479.1:c.8303C>G (SPEG)	XP_011508781.1:p.Pro2768Arg
XM_011510480.1:c.8135C>G (SPEG)	XP_011508782.1:p.Pro2712Arg
XM_011510481.1:c.8126C>G (SPEG)	XP_011508783.1:p.Pro2709Arg
XM_011510482.1:c.8120C>G (SPEG)	XP_011508784.1:p.Pro2707Arg
XM_011510483.1:c.8042C>G (SPEG)	XP_011508785.1:p.Pro2681Arg
XM_011510484.1:c.7958C>G (SPEG)	XP_011508786.1:p.Pro2653Arg
XR_923921.1:n.353-6768G>C (ASIC4-AS1)
XM_005246242.4:c.5912C>G (SPEG)	XP_005246299.1:p.Pro1971Arg
XM_006712189.3:c.7961C>G (SPEG)	XP_006712252.1:p.Pro2654Arg
XM_006712193.3:c.5726C>G (SPEG)	XP_006712256.1:p.Pro1909Arg
XM_011510479.2:c.8303C>G (SPEG)	XP_011508781.1:p.Pro2768Arg
XM_011510483.2:c.8021C>G (SPEG)	XP_011508785.2:p.Pro2674Arg
XM_017003157.1:c.8021C>G (SPEG)	XP_016858646.1:p.Pro2674Arg
XM_017003158.2:c.5726C>G (SPEG)	XP_016858647.1:p.Pro1909Arg
XM_017003160.1:c.3281C>G (SPEG)	XP_016858649.1:p.Pro1094Arg
XR_923921.2:n.392-6768G>C (ASIC4-AS1)
NM_005876.5:c.8273C>G (SPEG) MANE Select	NP_005867.3:p.Pro2758Arg