Canonical Allele Identifier: CA5260305
Gene: TRUB2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.128322349C>T
GRCh37 chr9:g.131084628C>T
gnomAD v2:
9:131084628 C / T
gnomAD v3:
9:128322349 C / T
gnomAD v4:
chr9-128322349-C-T
Joint Max Group AF 0.00826634 (AFR)
Genomes Max Group AF 0.00742109 (AFR)
Exomes Max Group AF 0.00880958 (AFR)
ClinVar Allele:
1184174
ClinVar RCV:
RCV001557695
ClinVar Variation:
1194820
dbSNP:
11539570
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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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