Canonical Allele Identifier: CA350708648

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353836A>T (hg19) ; chr2:g.219489114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489114A>T , CM000664.2:g.219489114A>T	GRCh38
NC_000002.11:g.220353836A>T , CM000664.1:g.220353836A>T	GRCh37
NC_000002.10:g.220062080A>T	NCBI36
NG_051022.1:g.59900A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8210A>T (SPEG) MANE Select	ENSP00000311684.7:p.His2737Leu
ENST00000312358.11:c.8210A>T (SPEG)	ENSP00000311684.7:p.His2737Leu
ENST00000485813.5:n.7453A>T (SPEG)
NM_005876.4:c.8210A>T (SPEG)	NP_005867.3:p.His2737Leu
XM_005246237.2:c.7928A>T (SPEG)	XP_005246294.1:p.His2643Leu
XM_005246239.2:c.5834A>T (SPEG)	XP_005246296.1:p.His1945Leu
XM_005246240.2:c.5663A>T (SPEG)	XP_005246297.1:p.His1888Leu
XM_005246241.1:c.5663A>T (SPEG)	XP_005246298.1:p.His1888Leu
XM_005246242.3:c.5849A>T (SPEG)	XP_005246299.1:p.His1950Leu
XM_006712189.2:c.7898A>T (SPEG)	XP_006712252.1:p.His2633Leu
XM_006712193.2:c.5663A>T (SPEG)	XP_006712256.1:p.His1888Leu
XM_011510479.1:c.8240A>T (SPEG)	XP_011508781.1:p.His2747Leu
XM_011510480.1:c.8072A>T (SPEG)	XP_011508782.1:p.His2691Leu
XM_011510481.1:c.8063A>T (SPEG)	XP_011508783.1:p.His2688Leu
XM_011510482.1:c.8057A>T (SPEG)	XP_011508784.1:p.His2686Leu
XM_011510483.1:c.7979A>T (SPEG)	XP_011508785.1:p.His2660Leu
XM_011510484.1:c.7895A>T (SPEG)	XP_011508786.1:p.His2632Leu
XR_923921.1:n.353-6705T>A (ASIC4-AS1)
XM_005246242.4:c.5849A>T (SPEG)	XP_005246299.1:p.His1950Leu
XM_006712189.3:c.7898A>T (SPEG)	XP_006712252.1:p.His2633Leu
XM_006712193.3:c.5663A>T (SPEG)	XP_006712256.1:p.His1888Leu
XM_011510479.2:c.8240A>T (SPEG)	XP_011508781.1:p.His2747Leu
XM_011510483.2:c.7958A>T (SPEG)	XP_011508785.2:p.His2653Leu
XM_017003157.1:c.7958A>T (SPEG)	XP_016858646.1:p.His2653Leu
XM_017003158.2:c.5663A>T (SPEG)	XP_016858647.1:p.His1888Leu
XM_017003160.1:c.3218A>T (SPEG)	XP_016858649.1:p.His1073Leu
XR_923921.2:n.392-6705T>A (ASIC4-AS1)
NM_005876.5:c.8210A>T (SPEG) MANE Select	NP_005867.3:p.His2737Leu