Canonical Allele Identifier: CA10724514
Gene: TRABD2B HGNC NCBI
COSMIC:
COSN6458645 (not active)
MyVariant.info:
GRCh38 chr1:g.47789110C>T
GRCh37 chr1:g.48254782C>T
gnomAD v2:
1:48254782 C / T
gnomAD v3:
1:47789110 C / T
gnomAD v4:
chr1-47789110-C-T
Joint Max Group AF 0.45037243 (EAS)
Genomes Max Group AF 0.45037243 (EAS)
dbSNP:
6588505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47789110C>T , CM000663.2:g.47789110C>T GRCh38
NC_000001.10:g.48254782C>T , CM000663.1:g.48254782C>T GRCh37
NC_000001.9:g.48027369C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000606738.3:c.988+5476G>A MANE Select ENSP00000476820.1:n.988+5476G>A
ENST00000435576.2:n.327-10566G>A
ENST00000606738.2:c.988+5476G>A ENSP00000476820.1:n.988+5476G>A
NM_001194986.1:c.988+5476G>A NP_001181915.1:n.988+5476G>A
XM_006710640.2:c.988+5476G>A XP_006710703.1:n.988+5476G>A
XM_011541442.1:c.988+5476G>A XP_011539744.1:n.988+5476G>A
XM_011541443.1:c.988+5476G>A XP_011539745.1:n.988+5476G>A
XM_011541444.1:c.988+5476G>A XP_011539746.1:n.988+5476G>A
XM_011541445.1:c.814-10566G>A XP_011539747.1:n.814-10566G>A
XR_426606.2:n.1568+5476G>A
XR_946653.1:n.1569+5476G>A
XR_946654.1:n.1395-10566G>A
XM_006710640.4:c.988+5476G>A XP_006710703.1:n.988+5476G>A
XM_011541443.3:c.988+5476G>A XP_011539745.1:n.988+5476G>A
XM_011541444.2:c.988+5476G>A XP_011539746.1:n.988+5476G>A
XM_011541445.3:c.814-10566G>A XP_011539747.1:n.814-10566G>A
XM_017001260.2:c.988+5476G>A XP_016856749.1:n.988+5476G>A
XM_017001261.2:c.814-10566G>A XP_016856750.1:n.814-10566G>A
XM_017001262.2:c.814-10566G>A XP_016856751.1:n.814-10566G>A
XM_017001263.2:c.419-10566G>A XP_016856752.1:n.419-10566G>A
XM_024446933.1:c.841+5476G>A XP_024302701.1:n.841+5476G>A
XM_024446935.1:c.841+5476G>A XP_024302703.1:n.841+5476G>A
XR_946654.3:n.1392-10566G>A
NM_001194986.2:c.988+5476G>A MANE Select NP_001181915.1:n.988+5476G>A
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