Canonical Allele Identifier: CA366174429
Gene: TIAM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.155129645A>C
GRCh37 chr6:g.155450779A>C
Revel Score:
ENST00000461783 0.198
ENST00000528928 0.198
ENST00000528535 0.198
ENST00000456144 0.198
ENST00000318981 0.198
ENST00000535583 0.198
ENST00000360366 0.198
ENST00000529824 0.198
gnomAD v2:
6:155450779 A / C
gnomAD v3:
6:155129645 A / C
gnomAD v4:
chr6-155129645-A-C
Joint Max Group AF 0.00000443 (AFR)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682666.1:c.422A>C MANE Select ENSP00000507157.1:p.Tyr141Ser
ENST00000318981.9:c.422A>C ENSP00000327315.5:p.Tyr141Ser
ENST00000360366.8:c.422A>C ENSP00000353528.4:p.Tyr141Ser
ENST00000461783.7:c.422A>C ENSP00000437188.2:p.Tyr141Ser
ENST00000528535.5:c.422A>C ENSP00000434901.1:p.Tyr141Ser
ENST00000529824.6:c.422A>C ENSP00000433348.2:p.Tyr141Ser
ENST00000535583.1:c.422A>C ENSP00000442989.1:p.Tyr141Ser
NM_012454.3:c.422A>C NP_036586.2:p.Tyr141Ser
NM_001384546.1:c.422A>C NP_001371475.1:p.Tyr141Ser
NM_001384547.1:c.422A>C NP_001371476.1:p.Tyr141Ser
NM_012454.4:c.422A>C MANE Select NP_036586.3:p.Tyr141Ser
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