Canonical Allele Identifier: CA431431519

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353939T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489217T>C , CM000664.2:g.219489217T>C	GRCh38
NC_000002.11:g.220353939T>C , CM000664.1:g.220353939T>C	GRCh37
NC_000002.10:g.220062183T>C	NCBI36
NG_051022.1:g.60003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8313T>C (SPEG) MANE Select	ENSP00000311684.7:p.Thr2771=
ENST00000312358.11:c.8313T>C (SPEG)	ENSP00000311684.7:p.Thr2771=
ENST00000485813.5:n.7556T>C (SPEG)
NM_005876.4:c.8313T>C (SPEG)	NP_005867.3:p.Thr2771=
XM_005246237.2:c.8031T>C (SPEG)	XP_005246294.1:p.Thr2677=
XM_005246239.2:c.5937T>C (SPEG)	XP_005246296.1:p.Thr1979=
XM_005246240.2:c.5766T>C (SPEG)	XP_005246297.1:p.Thr1922=
XM_005246241.1:c.5766T>C (SPEG)	XP_005246298.1:p.Thr1922=
XM_005246242.3:c.5952T>C (SPEG)	XP_005246299.1:p.Thr1984=
XM_006712189.2:c.8001T>C (SPEG)	XP_006712252.1:p.Thr2667=
XM_006712193.2:c.5766T>C (SPEG)	XP_006712256.1:p.Thr1922=
XM_011510479.1:c.8343T>C (SPEG)	XP_011508781.1:p.Thr2781=
XM_011510480.1:c.8175T>C (SPEG)	XP_011508782.1:p.Thr2725=
XM_011510481.1:c.8166T>C (SPEG)	XP_011508783.1:p.Thr2722=
XM_011510482.1:c.8160T>C (SPEG)	XP_011508784.1:p.Thr2720=
XM_011510483.1:c.8082T>C (SPEG)	XP_011508785.1:p.Thr2694=
XM_011510484.1:c.7998T>C (SPEG)	XP_011508786.1:p.Thr2666=
XR_923921.1:n.353-6808A>G (ASIC4-AS1)
XM_005246242.4:c.5952T>C (SPEG)	XP_005246299.1:p.Thr1984=
XM_006712189.3:c.8001T>C (SPEG)	XP_006712252.1:p.Thr2667=
XM_006712193.3:c.5766T>C (SPEG)	XP_006712256.1:p.Thr1922=
XM_011510479.2:c.8343T>C (SPEG)	XP_011508781.1:p.Thr2781=
XM_011510483.2:c.8061T>C (SPEG)	XP_011508785.2:p.Thr2687=
XM_017003157.1:c.8061T>C (SPEG)	XP_016858646.1:p.Thr2687=
XM_017003158.2:c.5766T>C (SPEG)	XP_016858647.1:p.Thr1922=
XM_017003160.1:c.3321T>C (SPEG)	XP_016858649.1:p.Thr1107=
XR_923921.2:n.392-6808A>G (ASIC4-AS1)
NM_005876.5:c.8313T>C (SPEG) MANE Select	NP_005867.3:p.Thr2771=