Canonical Allele Identifier: CA350708684

Gene: SPEG ASIC4-AS1

Linked Data

• dbSNP Id: rs748716131
• gnomAD v2: 2-220353856-G-A
• gnomAD v4: 2-219489134-G-A
• MyVariant Identifiers: chr2:g.220353856G>A (hg19) ; chr2:g.219489134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489134G>A , CM000664.2:g.219489134G>A	GRCh38
NC_000002.11:g.220353856G>A , CM000664.1:g.220353856G>A	GRCh37
NC_000002.10:g.220062100G>A	NCBI36
NG_051022.1:g.59920G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8230G>A (SPEG) MANE Select	ENSP00000311684.7:p.Val2744Met
ENST00000312358.11:c.8230G>A (SPEG)	ENSP00000311684.7:p.Val2744Met
ENST00000485813.5:n.7473G>A (SPEG)
NM_005876.4:c.8230G>A (SPEG)	NP_005867.3:p.Val2744Met
XM_005246237.2:c.7948G>A (SPEG)	XP_005246294.1:p.Val2650Met
XM_005246239.2:c.5854G>A (SPEG)	XP_005246296.1:p.Val1952Met
XM_005246240.2:c.5683G>A (SPEG)	XP_005246297.1:p.Val1895Met
XM_005246241.1:c.5683G>A (SPEG)	XP_005246298.1:p.Val1895Met
XM_005246242.3:c.5869G>A (SPEG)	XP_005246299.1:p.Val1957Met
XM_006712189.2:c.7918G>A (SPEG)	XP_006712252.1:p.Val2640Met
XM_006712193.2:c.5683G>A (SPEG)	XP_006712256.1:p.Val1895Met
XM_011510479.1:c.8260G>A (SPEG)	XP_011508781.1:p.Val2754Met
XM_011510480.1:c.8092G>A (SPEG)	XP_011508782.1:p.Val2698Met
XM_011510481.1:c.8083G>A (SPEG)	XP_011508783.1:p.Val2695Met
XM_011510482.1:c.8077G>A (SPEG)	XP_011508784.1:p.Val2693Met
XM_011510483.1:c.7999G>A (SPEG)	XP_011508785.1:p.Val2667Met
XM_011510484.1:c.7915G>A (SPEG)	XP_011508786.1:p.Val2639Met
XR_923921.1:n.353-6725C>T (ASIC4-AS1)
XM_005246242.4:c.5869G>A (SPEG)	XP_005246299.1:p.Val1957Met
XM_006712189.3:c.7918G>A (SPEG)	XP_006712252.1:p.Val2640Met
XM_006712193.3:c.5683G>A (SPEG)	XP_006712256.1:p.Val1895Met
XM_011510479.2:c.8260G>A (SPEG)	XP_011508781.1:p.Val2754Met
XM_011510483.2:c.7978G>A (SPEG)	XP_011508785.2:p.Val2660Met
XM_017003157.1:c.7978G>A (SPEG)	XP_016858646.1:p.Val2660Met
XM_017003158.2:c.5683G>A (SPEG)	XP_016858647.1:p.Val1895Met
XM_017003160.1:c.3238G>A (SPEG)	XP_016858649.1:p.Val1080Met
XR_923921.2:n.392-6725C>T (ASIC4-AS1)
NM_005876.5:c.8230G>A (SPEG) MANE Select	NP_005867.3:p.Val2744Met