Canonical Allele Identifier: CA4065007
Community Standard Title: NM_012454.4(TIAM2):c.4133G>A (p.Arg1378Gln)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.155252961G>A , CM000668.2:g.155252961G>A GRCh38
NC_000006.11:g.155574095G>A , CM000668.1:g.155574095G>A GRCh37
NC_000006.10:g.155615787G>A NCBI36
NG_027528.2:g.66537C>T

Transcript Alleles

HGVS Amino-acid Change
NM_012454.4:c.4133G>A (TIAM2) MANE Select NP_036586.3:p.Arg1378Gln
ENST00000682666.1:c.4133G>A (TIAM2) MANE Select ENSP00000507157.1:p.Arg1378Gln
NM_001010927.2:c.908G>A (TIAM2) NP_001010927.1:p.Arg303Gln
NM_001010927.3:c.908G>A (TIAM2) NP_001010927.2:p.Arg303Gln
NM_001384546.1:c.4133G>A (TIAM2) NP_001371475.1:p.Arg1378Gln
NM_001384547.1:c.4133G>A (TIAM2) NP_001371476.1:p.Arg1378Gln
NM_012454.3:c.4133G>A (TIAM2) NP_036586.2:p.Arg1378Gln
NR_146725.1:n.860+665C>T (TFB1M)
NR_146725.2:n.861+665C>T (TFB1M)
ENST00000275246.11:c.908G>A (TIAM2) ENSP00000275246.7:p.Arg303Gln
ENST00000318981.9:c.4133G>A (TIAM2) ENSP00000327315.5:p.Arg1378Gln
ENST00000360366.8:c.4205G>A (TIAM2) ENSP00000353528.4:p.Arg1402Gln
ENST00000456877.6:c.2069G>A (TIAM2) ENSP00000407183.2:p.Arg690Gln
ENST00000461783.7:c.4133G>A (TIAM2) ENSP00000437188.2:p.Arg1378Gln
ENST00000528391.6:c.2141G>A (TIAM2) ENSP00000435335.2:p.Arg714Gln
ENST00000529824.6:c.4220G>A (TIAM2) ENSP00000433348.2:p.Arg1407Gln
ENST00000537845.1:n.43G>A (TIAM2)
XM_011535871.1:c.*1+665C>T (TFB1M) XP_011534173.1:n.*1+665C>T
XM_011535871.2:c.*1+665C>T (TFB1M) XP_011534173.1:n.*1+665C>T
XM_011535872.1:c.*1+665C>T (TFB1M) XP_011534174.1:n.*1+665C>T
XM_011535872.2:c.*1+665C>T (TFB1M) XP_011534174.1:n.*1+665C>T