Canonical Allele Identifier: CA254151
Gene: TRIM32 HGNC NCBI
ASTN2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7351
dbSNP Id: rs111033571

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116698130C>T , CM000671.2:g.116698130C>T GRCh38
NC_000009.11:g.119460409C>T , CM000671.1:g.119460409C>T GRCh37
NC_000009.10:g.118500230C>T NCBI36
NG_011619.1:g.15829C>T , LRG_211:g.15829C>T
NG_021409.1:g.721909G>A
NG_021409.2:g.721928G>A

Transcript Alleles

HGVS Amino-acid change
NM_001099679.1:c.388C>T (TRIM32) VV NP_001093149.1:p.Pro130Ser
NM_012210.3:c.388C>T , LRG_211t1:c.388C>T (TRIM32) NP_036342.2:p.Pro130Ser
NM_014010.4:c.2653+27641G>A (ASTN2) VV NP_054729.3:p.=
XM_005251813.2:c.388C>T (TRIM32) XP_005251870.1:p.Pro130Ser
XM_011518396.1:c.388C>T (TRIM32) XP_011516698.1:p.Pro130Ser
XM_011518397.1:c.388C>T (TRIM32) XP_011516699.1:p.Pro130Ser
XM_011518398.1:c.388C>T (TRIM32) XP_011516700.1:p.Pro130Ser
NM_001365068.1:c.2806+27641G>A (ASTN2) VV NP_001351997.1:p.=
NM_001365069.1:c.2794+27641G>A (ASTN2) VV NP_001351998.1:p.=
XM_005251813.4:c.388C>T (TRIM32)
XM_011518398.2:c.388C>T (TRIM32)
XM_017014486.1:c.388C>T (TRIM32) XP_016869975.1:p.Pro130Ser
ENST00000313400.8:c.2806+27641G>A ENSP00000314038.4:p.=
ENST00000361209.6:c.2653+27641G>A ENSP00000354504.2:p.=
ENST00000361477.7:c.-39+27641G>A ENSP00000355116.4:p.=
ENST00000373983.2:c.388C>T ENSP00000363095.1:p.Pro130Ser
ENST00000373986.7:n.1975+27641G>A ENSP00000363098.3:p.=
ENST00000411410.1:c.388C>T ENSP00000412603.1:p.Pro130Ser
ENST00000450136.1:c.388C>T ENSP00000408292.1:p.Pro130Ser