Canonical Allele Identifier: CA350708722

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353875G>T (hg19) ; chr2:g.219489153G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489153G>T , CM000664.2:g.219489153G>T	GRCh38
NC_000002.11:g.220353875G>T , CM000664.1:g.220353875G>T	GRCh37
NC_000002.10:g.220062119G>T	NCBI36
NG_051022.1:g.59939G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8249G>T (SPEG) MANE Select	ENSP00000311684.7:p.Cys2750Phe
ENST00000312358.11:c.8249G>T (SPEG)	ENSP00000311684.7:p.Cys2750Phe
ENST00000485813.5:n.7492G>T (SPEG)
NM_005876.4:c.8249G>T (SPEG)	NP_005867.3:p.Cys2750Phe
XM_005246237.2:c.7967G>T (SPEG)	XP_005246294.1:p.Cys2656Phe
XM_005246239.2:c.5873G>T (SPEG)	XP_005246296.1:p.Cys1958Phe
XM_005246240.2:c.5702G>T (SPEG)	XP_005246297.1:p.Cys1901Phe
XM_005246241.1:c.5702G>T (SPEG)	XP_005246298.1:p.Cys1901Phe
XM_005246242.3:c.5888G>T (SPEG)	XP_005246299.1:p.Cys1963Phe
XM_006712189.2:c.7937G>T (SPEG)	XP_006712252.1:p.Cys2646Phe
XM_006712193.2:c.5702G>T (SPEG)	XP_006712256.1:p.Cys1901Phe
XM_011510479.1:c.8279G>T (SPEG)	XP_011508781.1:p.Cys2760Phe
XM_011510480.1:c.8111G>T (SPEG)	XP_011508782.1:p.Cys2704Phe
XM_011510481.1:c.8102G>T (SPEG)	XP_011508783.1:p.Cys2701Phe
XM_011510482.1:c.8096G>T (SPEG)	XP_011508784.1:p.Cys2699Phe
XM_011510483.1:c.8018G>T (SPEG)	XP_011508785.1:p.Cys2673Phe
XM_011510484.1:c.7934G>T (SPEG)	XP_011508786.1:p.Cys2645Phe
XR_923921.1:n.353-6744C>A (ASIC4-AS1)
XM_005246242.4:c.5888G>T (SPEG)	XP_005246299.1:p.Cys1963Phe
XM_006712189.3:c.7937G>T (SPEG)	XP_006712252.1:p.Cys2646Phe
XM_006712193.3:c.5702G>T (SPEG)	XP_006712256.1:p.Cys1901Phe
XM_011510479.2:c.8279G>T (SPEG)	XP_011508781.1:p.Cys2760Phe
XM_011510483.2:c.7997G>T (SPEG)	XP_011508785.2:p.Cys2666Phe
XM_017003157.1:c.7997G>T (SPEG)	XP_016858646.1:p.Cys2666Phe
XM_017003158.2:c.5702G>T (SPEG)	XP_016858647.1:p.Cys1901Phe
XM_017003160.1:c.3257G>T (SPEG)	XP_016858649.1:p.Cys1086Phe
XR_923921.2:n.392-6744C>A (ASIC4-AS1)
NM_005876.5:c.8249G>T (SPEG) MANE Select	NP_005867.3:p.Cys2750Phe