Canonical Allele Identifier: CA5260305
Gene: TRUB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1194820
ClinVar RCV Id: RCV001557695
dbSNP Id: rs11539570
ExAC: 9:131084628 C / T
gnomAD v2: 9-131084628-C-T
gnomAD v3: 9-128322349-C-T
gnomAD v4: 9-128322349-C-T
MyVariant Identifiers: chr9:g.131084628C>T (hg19) chr9:g.128322349C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128322349C>T , CM000671.2:g.128322349C>T GRCh38
NC_000009.11:g.131084628C>T , CM000671.1:g.131084628C>T GRCh37
NC_000009.10:g.130124449C>T NCBI36
NG_042101.1:g.4842C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372890.6:c.60G>A MANE Select ENSP00000361982.4:p.Gly20=
ENST00000372890.5:c.60G>A ENSP00000361982.4:p.Gly20=
ENST00000460320.1:n.65G>A
NM_015679.1:c.60G>A NP_056494.1:p.Gly20=
NM_001329861.1:c.60G>A NP_001316790.1:p.Gly20=
NM_001329863.1:c.-328G>A NP_001316792.1:n.-328G>A
NM_015679.2:c.60G>A NP_056494.1:p.Gly20=
NM_015679.3:c.60G>A MANE Select NP_056494.1:p.Gly20=
NM_001329861.2:c.60G>A NP_001316790.1:p.Gly20=
NM_001329863.2:c.-328G>A NP_001316792.1:n.-328G>A
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