Canonical Allele Identifier: CA431431414

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs1559431770
• gnomAD v2: 2-220353888-T-C
• gnomAD v3: 2-219489166-T-C
• gnomAD v4: 2-219489166-T-C
• MyVariant Identifiers: chr2:g.220353888T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489166T>C , CM000664.2:g.219489166T>C	GRCh38
NC_000002.11:g.220353888T>C , CM000664.1:g.220353888T>C	GRCh37
NC_000002.10:g.220062132T>C	NCBI36
NG_051022.1:g.59952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8262T>C (SPEG) MANE Select	ENSP00000311684.7:p.Ala2754=
ENST00000312358.11:c.8262T>C (SPEG)	ENSP00000311684.7:p.Ala2754=
ENST00000485813.5:n.7505T>C (SPEG)
NM_005876.4:c.8262T>C (SPEG)	NP_005867.3:p.Ala2754=
XM_005246237.2:c.7980T>C (SPEG)	XP_005246294.1:p.Ala2660=
XM_005246239.2:c.5886T>C (SPEG)	XP_005246296.1:p.Ala1962=
XM_005246240.2:c.5715T>C (SPEG)	XP_005246297.1:p.Ala1905=
XM_005246241.1:c.5715T>C (SPEG)	XP_005246298.1:p.Ala1905=
XM_005246242.3:c.5901T>C (SPEG)	XP_005246299.1:p.Ala1967=
XM_006712189.2:c.7950T>C (SPEG)	XP_006712252.1:p.Ala2650=
XM_006712193.2:c.5715T>C (SPEG)	XP_006712256.1:p.Ala1905=
XM_011510479.1:c.8292T>C (SPEG)	XP_011508781.1:p.Ala2764=
XM_011510480.1:c.8124T>C (SPEG)	XP_011508782.1:p.Ala2708=
XM_011510481.1:c.8115T>C (SPEG)	XP_011508783.1:p.Ala2705=
XM_011510482.1:c.8109T>C (SPEG)	XP_011508784.1:p.Ala2703=
XM_011510483.1:c.8031T>C (SPEG)	XP_011508785.1:p.Ala2677=
XM_011510484.1:c.7947T>C (SPEG)	XP_011508786.1:p.Ala2649=
XR_923921.1:n.353-6757A>G (ASIC4-AS1)
XM_005246242.4:c.5901T>C (SPEG)	XP_005246299.1:p.Ala1967=
XM_006712189.3:c.7950T>C (SPEG)	XP_006712252.1:p.Ala2650=
XM_006712193.3:c.5715T>C (SPEG)	XP_006712256.1:p.Ala1905=
XM_011510479.2:c.8292T>C (SPEG)	XP_011508781.1:p.Ala2764=
XM_011510483.2:c.8010T>C (SPEG)	XP_011508785.2:p.Ala2670=
XM_017003157.1:c.8010T>C (SPEG)	XP_016858646.1:p.Ala2670=
XM_017003158.2:c.5715T>C (SPEG)	XP_016858647.1:p.Ala1905=
XM_017003160.1:c.3270T>C (SPEG)	XP_016858649.1:p.Ala1090=
XR_923921.2:n.392-6757A>G (ASIC4-AS1)
NM_005876.5:c.8262T>C (SPEG) MANE Select	NP_005867.3:p.Ala2754=