Canonical Allele Identifier: CA350708857

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353937A>T (hg19) ; chr2:g.219489215A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489215A>T , CM000664.2:g.219489215A>T	GRCh38
NC_000002.11:g.220353937A>T , CM000664.1:g.220353937A>T	GRCh37
NC_000002.10:g.220062181A>T	NCBI36
NG_051022.1:g.60001A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8311A>T (SPEG) MANE Select	ENSP00000311684.7:p.Thr2771Ser
ENST00000312358.11:c.8311A>T (SPEG)	ENSP00000311684.7:p.Thr2771Ser
ENST00000485813.5:n.7554A>T (SPEG)
NM_005876.4:c.8311A>T (SPEG)	NP_005867.3:p.Thr2771Ser
XM_005246237.2:c.8029A>T (SPEG)	XP_005246294.1:p.Thr2677Ser
XM_005246239.2:c.5935A>T (SPEG)	XP_005246296.1:p.Thr1979Ser
XM_005246240.2:c.5764A>T (SPEG)	XP_005246297.1:p.Thr1922Ser
XM_005246241.1:c.5764A>T (SPEG)	XP_005246298.1:p.Thr1922Ser
XM_005246242.3:c.5950A>T (SPEG)	XP_005246299.1:p.Thr1984Ser
XM_006712189.2:c.7999A>T (SPEG)	XP_006712252.1:p.Thr2667Ser
XM_006712193.2:c.5764A>T (SPEG)	XP_006712256.1:p.Thr1922Ser
XM_011510479.1:c.8341A>T (SPEG)	XP_011508781.1:p.Thr2781Ser
XM_011510480.1:c.8173A>T (SPEG)	XP_011508782.1:p.Thr2725Ser
XM_011510481.1:c.8164A>T (SPEG)	XP_011508783.1:p.Thr2722Ser
XM_011510482.1:c.8158A>T (SPEG)	XP_011508784.1:p.Thr2720Ser
XM_011510483.1:c.8080A>T (SPEG)	XP_011508785.1:p.Thr2694Ser
XM_011510484.1:c.7996A>T (SPEG)	XP_011508786.1:p.Thr2666Ser
XR_923921.1:n.353-6806T>A (ASIC4-AS1)
XM_005246242.4:c.5950A>T (SPEG)	XP_005246299.1:p.Thr1984Ser
XM_006712189.3:c.7999A>T (SPEG)	XP_006712252.1:p.Thr2667Ser
XM_006712193.3:c.5764A>T (SPEG)	XP_006712256.1:p.Thr1922Ser
XM_011510479.2:c.8341A>T (SPEG)	XP_011508781.1:p.Thr2781Ser
XM_011510483.2:c.8059A>T (SPEG)	XP_011508785.2:p.Thr2687Ser
XM_017003157.1:c.8059A>T (SPEG)	XP_016858646.1:p.Thr2687Ser
XM_017003158.2:c.5764A>T (SPEG)	XP_016858647.1:p.Thr1922Ser
XM_017003160.1:c.3319A>T (SPEG)	XP_016858649.1:p.Thr1107Ser
XR_923921.2:n.392-6806T>A (ASIC4-AS1)
NM_005876.5:c.8311A>T (SPEG) MANE Select	NP_005867.3:p.Thr2771Ser