Canonical Allele Identifier: CA350708667

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs1274915434
• gnomAD v3: 2-219489123-T-C
• gnomAD v4: 2-219489123-T-C
• MyVariant Identifiers: chr2:g.220353845T>C (hg19) ; chr2:g.219489123T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489123T>C , CM000664.2:g.219489123T>C	GRCh38
NC_000002.11:g.220353845T>C , CM000664.1:g.220353845T>C	GRCh37
NC_000002.10:g.220062089T>C	NCBI36
NG_051022.1:g.59909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8219T>C (SPEG) MANE Select	ENSP00000311684.7:p.Val2740Ala
ENST00000312358.11:c.8219T>C (SPEG)	ENSP00000311684.7:p.Val2740Ala
ENST00000485813.5:n.7462T>C (SPEG)
NM_005876.4:c.8219T>C (SPEG)	NP_005867.3:p.Val2740Ala
XM_005246237.2:c.7937T>C (SPEG)	XP_005246294.1:p.Val2646Ala
XM_005246239.2:c.5843T>C (SPEG)	XP_005246296.1:p.Val1948Ala
XM_005246240.2:c.5672T>C (SPEG)	XP_005246297.1:p.Val1891Ala
XM_005246241.1:c.5672T>C (SPEG)	XP_005246298.1:p.Val1891Ala
XM_005246242.3:c.5858T>C (SPEG)	XP_005246299.1:p.Val1953Ala
XM_006712189.2:c.7907T>C (SPEG)	XP_006712252.1:p.Val2636Ala
XM_006712193.2:c.5672T>C (SPEG)	XP_006712256.1:p.Val1891Ala
XM_011510479.1:c.8249T>C (SPEG)	XP_011508781.1:p.Val2750Ala
XM_011510480.1:c.8081T>C (SPEG)	XP_011508782.1:p.Val2694Ala
XM_011510481.1:c.8072T>C (SPEG)	XP_011508783.1:p.Val2691Ala
XM_011510482.1:c.8066T>C (SPEG)	XP_011508784.1:p.Val2689Ala
XM_011510483.1:c.7988T>C (SPEG)	XP_011508785.1:p.Val2663Ala
XM_011510484.1:c.7904T>C (SPEG)	XP_011508786.1:p.Val2635Ala
XR_923921.1:n.353-6714A>G (ASIC4-AS1)
XM_005246242.4:c.5858T>C (SPEG)	XP_005246299.1:p.Val1953Ala
XM_006712189.3:c.7907T>C (SPEG)	XP_006712252.1:p.Val2636Ala
XM_006712193.3:c.5672T>C (SPEG)	XP_006712256.1:p.Val1891Ala
XM_011510479.2:c.8249T>C (SPEG)	XP_011508781.1:p.Val2750Ala
XM_011510483.2:c.7967T>C (SPEG)	XP_011508785.2:p.Val2656Ala
XM_017003157.1:c.7967T>C (SPEG)	XP_016858646.1:p.Val2656Ala
XM_017003158.2:c.5672T>C (SPEG)	XP_016858647.1:p.Val1891Ala
XM_017003160.1:c.3227T>C (SPEG)	XP_016858649.1:p.Val1076Ala
XR_923921.2:n.392-6714A>G (ASIC4-AS1)
NM_005876.5:c.8219T>C (SPEG) MANE Select	NP_005867.3:p.Val2740Ala