Canonical Allele Identifier: CA350708628

Gene: SPEG ASIC4-AS1

Linked Data

• MyVariant Identifiers: chr2:g.220353826A>C (hg19) ; chr2:g.219489104A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489104A>C , CM000664.2:g.219489104A>C	GRCh38
NC_000002.11:g.220353826A>C , CM000664.1:g.220353826A>C	GRCh37
NC_000002.10:g.220062070A>C	NCBI36
NG_051022.1:g.59890A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8200A>C (SPEG) MANE Select	ENSP00000311684.7:p.Asn2734His
ENST00000312358.11:c.8200A>C (SPEG)	ENSP00000311684.7:p.Asn2734His
ENST00000485813.5:n.7443A>C (SPEG)
NM_005876.4:c.8200A>C (SPEG)	NP_005867.3:p.Asn2734His
XM_005246237.2:c.7918A>C (SPEG)	XP_005246294.1:p.Asn2640His
XM_005246239.2:c.5824A>C (SPEG)	XP_005246296.1:p.Asn1942His
XM_005246240.2:c.5653A>C (SPEG)	XP_005246297.1:p.Asn1885His
XM_005246241.1:c.5653A>C (SPEG)	XP_005246298.1:p.Asn1885His
XM_005246242.3:c.5839A>C (SPEG)	XP_005246299.1:p.Asn1947His
XM_006712189.2:c.7888A>C (SPEG)	XP_006712252.1:p.Asn2630His
XM_006712193.2:c.5653A>C (SPEG)	XP_006712256.1:p.Asn1885His
XM_011510479.1:c.8230A>C (SPEG)	XP_011508781.1:p.Asn2744His
XM_011510480.1:c.8062A>C (SPEG)	XP_011508782.1:p.Asn2688His
XM_011510481.1:c.8053A>C (SPEG)	XP_011508783.1:p.Asn2685His
XM_011510482.1:c.8047A>C (SPEG)	XP_011508784.1:p.Asn2683His
XM_011510483.1:c.7969A>C (SPEG)	XP_011508785.1:p.Asn2657His
XM_011510484.1:c.7885A>C (SPEG)	XP_011508786.1:p.Asn2629His
XR_923921.1:n.353-6695T>G (ASIC4-AS1)
XM_005246242.4:c.5839A>C (SPEG)	XP_005246299.1:p.Asn1947His
XM_006712189.3:c.7888A>C (SPEG)	XP_006712252.1:p.Asn2630His
XM_006712193.3:c.5653A>C (SPEG)	XP_006712256.1:p.Asn1885His
XM_011510479.2:c.8230A>C (SPEG)	XP_011508781.1:p.Asn2744His
XM_011510483.2:c.7948A>C (SPEG)	XP_011508785.2:p.Asn2650His
XM_017003157.1:c.7948A>C (SPEG)	XP_016858646.1:p.Asn2650His
XM_017003158.2:c.5653A>C (SPEG)	XP_016858647.1:p.Asn1885His
XM_017003160.1:c.3208A>C (SPEG)	XP_016858649.1:p.Asn1070His
XR_923921.2:n.392-6695T>G (ASIC4-AS1)
NM_005876.5:c.8200A>C (SPEG) MANE Select	NP_005867.3:p.Asn2734His