Canonical Allele Identifier: CA2198230
Gene: TRAF3IP1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.238333959G>C
GRCh37 chr2:g.239242600G>C
gnomAD v2:
2:239242600 G / C
gnomAD v3:
2:238333959 G / C
gnomAD v4:
chr2-238333959-G-C
Joint Max Group AF 0.00001653 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001635 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.238333959G>C , CM000664.2:g.238333959G>C GRCh38
NC_000002.11:g.239242600G>C , CM000664.1:g.239242600G>C GRCh37
NC_000002.10:g.238907339G>C NCBI36
NG_053055.1:g.18471G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373327.5:c.988-1G>C MANE Select ENSP00000362424.4:n.988-1G>C
ENST00000373327.4:c.988-1G>C ENSP00000362424.4:n.988-1G>C
ENST00000391993.7:c.988-1G>C ENSP00000375851.3:n.988-1G>C
NM_001139490.1:c.988-1G>C NP_001132962.1:n.988-1G>C
NM_015650.3:c.988-1G>C NP_056465.2:n.988-1G>C
XM_006712414.1:c.988-1G>C XP_006712477.1:n.988-1G>C
XM_011510944.1:c.988-1G>C XP_011509246.1:n.988-1G>C
XM_011510945.1:c.988-1G>C XP_011509247.1:n.988-1G>C
XM_011510946.1:c.916-1G>C XP_011509248.1:n.916-1G>C
XM_011510947.1:c.856-1G>C XP_011509249.1:n.856-1G>C
XM_011510948.1:c.988-1G>C XP_011509250.1:n.988-1G>C
XM_011510949.1:c.988-1G>C XP_011509251.1:n.988-1G>C
XR_922902.1:n.1099-1G>C
XM_006712414.2:c.988-1G>C XP_006712477.1:n.988-1G>C
XM_011510944.2:c.988-1G>C XP_011509246.1:n.988-1G>C
XM_011510945.2:c.988-1G>C XP_011509247.1:n.988-1G>C
XM_011510946.2:c.916-1G>C XP_011509248.1:n.916-1G>C
XM_011510947.2:c.856-1G>C XP_011509249.1:n.856-1G>C
XM_011510948.2:c.988-1G>C XP_011509250.1:n.988-1G>C
XM_017003789.1:c.988-1G>C XP_016859278.1:n.988-1G>C
XR_001738696.1:n.1089+4617G>C
XR_001738697.1:n.1089+4617G>C
XR_922902.2:n.1162-1G>C
NM_015650.4:c.988-1G>C MANE Select NP_056465.2:n.988-1G>C
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