Canonical Allele Identifier: CA431431447

Gene: SPEG ASIC4-AS1

Linked Data

• gnomAD v4: 2-219489181-C-T
• MyVariant Identifiers: chr2:g.220353903C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489181C>T , CM000664.2:g.219489181C>T	GRCh38
NC_000002.11:g.220353903C>T , CM000664.1:g.220353903C>T	GRCh37
NC_000002.10:g.220062147C>T	NCBI36
NG_051022.1:g.59967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8277C>T (SPEG) MANE Select	ENSP00000311684.7:p.Phe2759=
ENST00000312358.11:c.8277C>T (SPEG)	ENSP00000311684.7:p.Phe2759=
ENST00000485813.5:n.7520C>T (SPEG)
NM_005876.4:c.8277C>T (SPEG)	NP_005867.3:p.Phe2759=
XM_005246237.2:c.7995C>T (SPEG)	XP_005246294.1:p.Phe2665=
XM_005246239.2:c.5901C>T (SPEG)	XP_005246296.1:p.Phe1967=
XM_005246240.2:c.5730C>T (SPEG)	XP_005246297.1:p.Phe1910=
XM_005246241.1:c.5730C>T (SPEG)	XP_005246298.1:p.Phe1910=
XM_005246242.3:c.5916C>T (SPEG)	XP_005246299.1:p.Phe1972=
XM_006712189.2:c.7965C>T (SPEG)	XP_006712252.1:p.Phe2655=
XM_006712193.2:c.5730C>T (SPEG)	XP_006712256.1:p.Phe1910=
XM_011510479.1:c.8307C>T (SPEG)	XP_011508781.1:p.Phe2769=
XM_011510480.1:c.8139C>T (SPEG)	XP_011508782.1:p.Phe2713=
XM_011510481.1:c.8130C>T (SPEG)	XP_011508783.1:p.Phe2710=
XM_011510482.1:c.8124C>T (SPEG)	XP_011508784.1:p.Phe2708=
XM_011510483.1:c.8046C>T (SPEG)	XP_011508785.1:p.Phe2682=
XM_011510484.1:c.7962C>T (SPEG)	XP_011508786.1:p.Phe2654=
XR_923921.1:n.353-6772G>A (ASIC4-AS1)
XM_005246242.4:c.5916C>T (SPEG)	XP_005246299.1:p.Phe1972=
XM_006712189.3:c.7965C>T (SPEG)	XP_006712252.1:p.Phe2655=
XM_006712193.3:c.5730C>T (SPEG)	XP_006712256.1:p.Phe1910=
XM_011510479.2:c.8307C>T (SPEG)	XP_011508781.1:p.Phe2769=
XM_011510483.2:c.8025C>T (SPEG)	XP_011508785.2:p.Phe2675=
XM_017003157.1:c.8025C>T (SPEG)	XP_016858646.1:p.Phe2675=
XM_017003158.2:c.5730C>T (SPEG)	XP_016858647.1:p.Phe1910=
XM_017003160.1:c.3285C>T (SPEG)	XP_016858649.1:p.Phe1095=
XR_923921.2:n.392-6772G>A (ASIC4-AS1)
NM_005876.5:c.8277C>T (SPEG) MANE Select	NP_005867.3:p.Phe2759=