Canonical Allele Identifier: CA374648208
Gene: ASTN2 HGNC NCBI
TRIM32 HGNC NCBI

Linked Data

dbSNP Id: rs1257201729

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116698094G>T , CM000671.2:g.116698094G>T GRCh38
NC_000009.11:g.119460373G>T , CM000671.1:g.119460373G>T GRCh37
NC_000009.10:g.118500194G>T NCBI36
NG_011619.1:g.15793G>T , LRG_211:g.15793G>T
NG_021409.1:g.721945C>A
NG_021409.2:g.721964C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.2806+27677C>A (ASTN2) MANE Select ENSP00000314038.4:n.2806+27677C>A
ENST00000361477.8:c.2653+27677C>A (ASTN2) ENSP00000355116.5:n.2653+27677C>A
ENST00000450136.2:c.352G>T (TRIM32) MANE Select ENSP00000408292.1:p.Val118Leu
ENST00000313400.8:c.2806+27677C>A (ASTN2) ENSP00000314038.4:n.2806+27677C>A
ENST00000361209.6:c.2653+27677C>A (ASTN2) ENSP00000354504.2:n.2653+27677C>A
ENST00000361477.7:c.-39+27677C>A (ASTN2) ENSP00000355116.4:n.-39+27677C>A
ENST00000373983.2:c.352G>T (TRIM32) ENSP00000363095.1:p.Val118Leu
ENST00000373986.7:c.1975+27677C>A (ASTN2) ENSP00000363098.3:n.1975+27677C>A
ENST00000411410.1:c.352G>T (TRIM32) ENSP00000412603.1:p.Val118Leu
ENST00000450136.1:c.352G>T (TRIM32) ENSP00000408292.1:p.Val118Leu
NM_001099679.1:c.352G>T (TRIM32) NP_001093149.1:p.Val118Leu
NM_012210.3:c.352G>T , LRG_211t1:c.352G>T (TRIM32) NP_036342.2:p.Val118Leu
NM_014010.4:c.2653+27677C>A (ASTN2) NP_054729.3:n.2653+27677C>A
XM_005251813.2:c.352G>T (TRIM32) XP_005251870.1:p.Val118Leu
XM_011518396.1:c.352G>T (TRIM32) XP_011516698.1:p.Val118Leu
XM_011518397.1:c.352G>T (TRIM32) XP_011516699.1:p.Val118Leu
XM_011518398.1:c.352G>T (TRIM32) XP_011516700.1:p.Val118Leu
NM_001365068.1:c.2806+27677C>A (ASTN2) MANE Select NP_001351997.1:n.2806+27677C>A
NM_001365069.1:c.2794+27677C>A (ASTN2) NP_001351998.1:n.2794+27677C>A
XM_005251813.4:c.352G>T (TRIM32) XP_005251870.1:p.Val118Leu
XM_011518398.2:c.352G>T (TRIM32) XP_011516700.1:p.Val118Leu
XM_017014486.1:c.352G>T (TRIM32) XP_016869975.1:p.Val118Leu
NM_001099679.2:c.352G>T (TRIM32) NP_001093149.1:p.Val118Leu
NM_014010.5:c.2653+27677C>A (ASTN2) NP_054729.3:n.2653+27677C>A
NM_001379048.1:c.352G>T (TRIM32) NP_001365977.1:p.Val118Leu
NM_001379049.1:c.352G>T (TRIM32) NP_001365978.1:p.Val118Leu
NM_001379050.1:c.352G>T (TRIM32) NP_001365979.1:p.Val118Leu
NM_012210.4:c.352G>T (TRIM32) MANE Select NP_036342.2:p.Val118Leu