Canonical Allele Identifier: CA4063915
Gene: TIAM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.155129645A>G
GRCh37 chr6:g.155450779A>G
Revel Score:
ENST00000461783 0.241
ENST00000528928 0.241
ENST00000528535 0.241
ENST00000456144 0.241
ENST00000318981 0.241
ENST00000535583 0.241
ENST00000360366 0.241
ENST00000529824 0.241
gnomAD v2:
6:155450779 A / G
gnomAD v3:
6:155129645 A / G
gnomAD v4:
chr6-155129645-A-G
Joint Max Group AF 0.00013249 (NFE)
Genomes Max Group AF 0.00036751 (NFE)
Exomes Max Group AF 0.00011187 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.155129645A>G , CM000668.2:g.155129645A>G GRCh38
NC_000006.11:g.155450779A>G , CM000668.1:g.155450779A>G GRCh37
NC_000006.10:g.155492471A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682666.1:c.422A>G MANE Select ENSP00000507157.1:p.Tyr141Cys
ENST00000318981.9:c.422A>G ENSP00000327315.5:p.Tyr141Cys
ENST00000360366.8:c.422A>G ENSP00000353528.4:p.Tyr141Cys
ENST00000461783.7:c.422A>G ENSP00000437188.2:p.Tyr141Cys
ENST00000528535.5:c.422A>G ENSP00000434901.1:p.Tyr141Cys
ENST00000529824.6:c.422A>G ENSP00000433348.2:p.Tyr141Cys
ENST00000535583.1:c.422A>G ENSP00000442989.1:p.Tyr141Cys
NM_012454.3:c.422A>G NP_036586.2:p.Tyr141Cys
NM_001384546.1:c.422A>G NP_001371475.1:p.Tyr141Cys
NM_001384547.1:c.422A>G NP_001371476.1:p.Tyr141Cys
NM_012454.4:c.422A>G MANE Select NP_036586.3:p.Tyr141Cys
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