Canonical Allele Identifier: CA431431446

Gene: SPEG ASIC4-AS1

Linked Data

• gnomAD v4: 2-219489178-C-G
• MyVariant Identifiers: chr2:g.220353900C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219489178C>G , CM000664.2:g.219489178C>G	GRCh38
NC_000002.11:g.220353900C>G , CM000664.1:g.220353900C>G	GRCh37
NC_000002.10:g.220062144C>G	NCBI36
NG_051022.1:g.59964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312358.12:c.8274C>G (SPEG) MANE Select	ENSP00000311684.7:p.Pro2758=
ENST00000312358.11:c.8274C>G (SPEG)	ENSP00000311684.7:p.Pro2758=
ENST00000485813.5:n.7517C>G (SPEG)
NM_005876.4:c.8274C>G (SPEG)	NP_005867.3:p.Pro2758=
XM_005246237.2:c.7992C>G (SPEG)	XP_005246294.1:p.Pro2664=
XM_005246239.2:c.5898C>G (SPEG)	XP_005246296.1:p.Pro1966=
XM_005246240.2:c.5727C>G (SPEG)	XP_005246297.1:p.Pro1909=
XM_005246241.1:c.5727C>G (SPEG)	XP_005246298.1:p.Pro1909=
XM_005246242.3:c.5913C>G (SPEG)	XP_005246299.1:p.Pro1971=
XM_006712189.2:c.7962C>G (SPEG)	XP_006712252.1:p.Pro2654=
XM_006712193.2:c.5727C>G (SPEG)	XP_006712256.1:p.Pro1909=
XM_011510479.1:c.8304C>G (SPEG)	XP_011508781.1:p.Pro2768=
XM_011510480.1:c.8136C>G (SPEG)	XP_011508782.1:p.Pro2712=
XM_011510481.1:c.8127C>G (SPEG)	XP_011508783.1:p.Pro2709=
XM_011510482.1:c.8121C>G (SPEG)	XP_011508784.1:p.Pro2707=
XM_011510483.1:c.8043C>G (SPEG)	XP_011508785.1:p.Pro2681=
XM_011510484.1:c.7959C>G (SPEG)	XP_011508786.1:p.Pro2653=
XR_923921.1:n.353-6769G>C (ASIC4-AS1)
XM_005246242.4:c.5913C>G (SPEG)	XP_005246299.1:p.Pro1971=
XM_006712189.3:c.7962C>G (SPEG)	XP_006712252.1:p.Pro2654=
XM_006712193.3:c.5727C>G (SPEG)	XP_006712256.1:p.Pro1909=
XM_011510479.2:c.8304C>G (SPEG)	XP_011508781.1:p.Pro2768=
XM_011510483.2:c.8022C>G (SPEG)	XP_011508785.2:p.Pro2674=
XM_017003157.1:c.8022C>G (SPEG)	XP_016858646.1:p.Pro2674=
XM_017003158.2:c.5727C>G (SPEG)	XP_016858647.1:p.Pro1909=
XM_017003160.1:c.3282C>G (SPEG)	XP_016858649.1:p.Pro1094=
XR_923921.2:n.392-6769G>C (ASIC4-AS1)
NM_005876.5:c.8274C>G (SPEG) MANE Select	NP_005867.3:p.Pro2758=