Canonical Allele Identifier: CA1551618
Gene: ITSN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1265149
ClinVar RCV Id: RCV001677922
dbSNP Id: rs7603997
gnomAD v2: 2-24524958-C-T
gnomAD v3: 2-24302089-C-T
gnomAD v4: 2-24302089-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.24302089C>T , CM000664.2:g.24302089C>T GRCh38
NC_000002.11:g.24524958C>T , CM000664.1:g.24524958C>T GRCh37
NC_000002.10:g.24378462C>T NCBI36
NG_029516.1:g.63440G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355123.9:c.871G>A MANE Select ENSP00000347244.4:p.Val291Ile
ENST00000355123.8:c.871G>A ENSP00000347244.4:p.Val291Ile
ENST00000361999.7:c.871G>A ENSP00000354561.2:p.Val291Ile
ENST00000406921.7:c.871G>A ENSP00000384499.3:p.Val291Ile
ENST00000412011.5:c.946G>A ENSP00000391224.1:p.Val316Ile
ENST00000622089.4:c.901G>A ENSP00000479408.1:p.Val301Ile
NM_006277.2:c.871G>A NP_006268.2:p.Val291Ile
NM_019595.3:c.871G>A NP_062541.3:p.Val291Ile
NM_147152.2:c.871G>A NP_671494.2:p.Val291Ile
NM_001348181.1:c.829G>A NP_001335110.1:p.Val277Ile
NM_001348182.1:c.871G>A NP_001335111.1:p.Val291Ile
NM_001348183.1:c.871G>A NP_001335112.1:p.Val291Ile
NM_001348184.1:c.829G>A NP_001335113.1:p.Val277Ile
NM_001348185.1:c.871G>A NP_001335114.1:p.Val291Ile
NM_001348186.1:c.871G>A NP_001335115.1:p.Val291Ile
XM_024452930.1:c.871G>A XP_024308698.1:p.Val291Ile
XM_024452931.1:c.871G>A XP_024308699.1:p.Val291Ile
XM_024452932.1:c.829G>A XP_024308700.1:p.Val277Ile
XM_024452933.1:c.871G>A XP_024308701.1:p.Val291Ile
XM_024452934.1:c.871G>A XP_024308702.1:p.Val291Ile
XM_024452935.1:c.829G>A XP_024308703.1:p.Val277Ile
XM_024452936.1:c.829G>A XP_024308704.1:p.Val277Ile
XR_002959302.1:n.859G>A
NM_001348181.2:c.829G>A NP_001335110.1:p.Val277Ile
NM_001348182.2:c.871G>A NP_001335111.1:p.Val291Ile
NM_001348183.2:c.871G>A NP_001335112.1:p.Val291Ile
NM_001348184.2:c.829G>A NP_001335113.1:p.Val277Ile
NM_001348185.2:c.871G>A NP_001335114.1:p.Val291Ile
NM_001348186.2:c.871G>A NP_001335115.1:p.Val291Ile
NM_006277.3:c.871G>A MANE Select NP_006268.2:p.Val291Ile
NM_019595.4:c.871G>A NP_062541.3:p.Val291Ile
NM_147152.3:c.871G>A NP_671494.2:p.Val291Ile