Canonical Allele Identifier: CA10606036

Gene: ASTN2 TRIM32

Linked Data

• ClinVar Variation Id: 288293
• ClinVar RCV Id: RCV000344739 ; RCV002518030
• dbSNP Id: rs150318692
• gnomAD v4: 9-116699401-C-G
• MyVariant Identifiers: chr9:g.119461680C>G (hg19) ; chr9:g.116699401C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116699401C>G , CM000671.2:g.116699401C>G	GRCh38
NC_000009.11:g.119461680C>G , CM000671.1:g.119461680C>G	GRCh37
NC_000009.10:g.118501501C>G	NCBI36
NG_011619.1:g.17100C>G , LRG_211:g.17100C>G
NG_021409.1:g.720638G>C
NG_021409.2:g.720657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.2806+26370G>C (ASTN2) MANE Select	ENSP00000314038.4:n.2806+26370G>C
ENST00000361477.8:c.2653+26370G>C (ASTN2)	ENSP00000355116.5:n.2653+26370G>C
ENST00000450136.2:c.1659C>G (TRIM32) MANE Select	ENSP00000408292.1:p.Gly553=
ENST00000313400.8:c.2806+26370G>C (ASTN2)	ENSP00000314038.4:n.2806+26370G>C
ENST00000361209.6:c.2653+26370G>C (ASTN2)	ENSP00000354504.2:n.2653+26370G>C
ENST00000361477.7:c.-39+26370G>C (ASTN2)	ENSP00000355116.4:n.-39+26370G>C
ENST00000373983.2:c.1659C>G (TRIM32)	ENSP00000363095.1:p.Gly553=
ENST00000373986.7:c.1975+26370G>C (ASTN2)	ENSP00000363098.3:n.1975+26370G>C
ENST00000450136.1:c.1659C>G (TRIM32)	ENSP00000408292.1:p.Gly553=
NM_001099679.1:c.1659C>G (TRIM32)	NP_001093149.1:p.Gly553=
NM_012210.3:c.1659C>G , LRG_211t1:c.1659C>G (TRIM32)	NP_036342.2:p.Gly553=
NM_014010.4:c.2653+26370G>C (ASTN2)	NP_054729.3:n.2653+26370G>C
XM_005251813.2:c.1659C>G (TRIM32)	XP_005251870.1:p.Gly553=
XM_011518396.1:c.1659C>G (TRIM32)	XP_011516698.1:p.Gly553=
XM_011518397.1:c.1659C>G (TRIM32)	XP_011516699.1:p.Gly553=
XM_011518398.1:c.1659C>G (TRIM32)	XP_011516700.1:p.Gly553=
NM_001365068.1:c.2806+26370G>C (ASTN2) MANE Select	NP_001351997.1:n.2806+26370G>C
NM_001365069.1:c.2794+26370G>C (ASTN2)	NP_001351998.1:n.2794+26370G>C
XM_005251813.4:c.1659C>G (TRIM32)	XP_005251870.1:p.Gly553=
XM_011518398.2:c.1659C>G (TRIM32)	XP_011516700.1:p.Gly553=
XM_017014486.1:c.1659C>G (TRIM32)	XP_016869975.1:p.Gly553=
NM_001099679.2:c.1659C>G (TRIM32)	NP_001093149.1:p.Gly553=
NM_014010.5:c.2653+26370G>C (ASTN2)	NP_054729.3:n.2653+26370G>C
NM_001379048.1:c.1659C>G (TRIM32)	NP_001365977.1:p.Gly553=
NM_001379049.1:c.1659C>G (TRIM32)	NP_001365978.1:p.Gly553=
NM_001379050.1:c.1659C>G (TRIM32)	NP_001365979.1:p.Gly553=
NM_012210.4:c.1659C>G (TRIM32) MANE Select	NP_036342.2:p.Gly553=