Canonical Allele Identifier: CA431431404

Gene: SPEG ASIC4-AS1

Linked Data

• ClinVar Variation Id: 1943423
• ClinVar RCV Id: RCV002670856
• dbSNP Id: rs1261283023
• gnomAD v3: 2-219489127-C-T
• gnomAD v4: 2-219489127-C-T
• COSMIC: COSM4091708
• MyVariant Identifiers: chr2:g.220353849C>T (hg19) ; chr2:g.219489127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489127C>T , CM000664.2:g.219489127C>T	GRCh38
NC_000002.11:g.220353849C>T , CM000664.1:g.220353849C>T	GRCh37
NC_000002.10:g.220062093C>T	NCBI36
NG_051022.1:g.59913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8223C>T (SPEG) MANE Select	ENSP00000311684.7:p.Gly2741=
ENST00000312358.11:c.8223C>T (SPEG)	ENSP00000311684.7:p.Gly2741=
ENST00000485813.5:n.7466C>T (SPEG)
NM_005876.4:c.8223C>T (SPEG)	NP_005867.3:p.Gly2741=
XM_005246237.2:c.7941C>T (SPEG)	XP_005246294.1:p.Gly2647=
XM_005246239.2:c.5847C>T (SPEG)	XP_005246296.1:p.Gly1949=
XM_005246240.2:c.5676C>T (SPEG)	XP_005246297.1:p.Gly1892=
XM_005246241.1:c.5676C>T (SPEG)	XP_005246298.1:p.Gly1892=
XM_005246242.3:c.5862C>T (SPEG)	XP_005246299.1:p.Gly1954=
XM_006712189.2:c.7911C>T (SPEG)	XP_006712252.1:p.Gly2637=
XM_006712193.2:c.5676C>T (SPEG)	XP_006712256.1:p.Gly1892=
XM_011510479.1:c.8253C>T (SPEG)	XP_011508781.1:p.Gly2751=
XM_011510480.1:c.8085C>T (SPEG)	XP_011508782.1:p.Gly2695=
XM_011510481.1:c.8076C>T (SPEG)	XP_011508783.1:p.Gly2692=
XM_011510482.1:c.8070C>T (SPEG)	XP_011508784.1:p.Gly2690=
XM_011510483.1:c.7992C>T (SPEG)	XP_011508785.1:p.Gly2664=
XM_011510484.1:c.7908C>T (SPEG)	XP_011508786.1:p.Gly2636=
XR_923921.1:n.353-6718G>A (ASIC4-AS1)
XM_005246242.4:c.5862C>T (SPEG)	XP_005246299.1:p.Gly1954=
XM_006712189.3:c.7911C>T (SPEG)	XP_006712252.1:p.Gly2637=
XM_006712193.3:c.5676C>T (SPEG)	XP_006712256.1:p.Gly1892=
XM_011510479.2:c.8253C>T (SPEG)	XP_011508781.1:p.Gly2751=
XM_011510483.2:c.7971C>T (SPEG)	XP_011508785.2:p.Gly2657=
XM_017003157.1:c.7971C>T (SPEG)	XP_016858646.1:p.Gly2657=
XM_017003158.2:c.5676C>T (SPEG)	XP_016858647.1:p.Gly1892=
XM_017003160.1:c.3231C>T (SPEG)	XP_016858649.1:p.Gly1077=
XR_923921.2:n.392-6718G>A (ASIC4-AS1)
NM_005876.5:c.8223C>T (SPEG) MANE Select	NP_005867.3:p.Gly2741=