Canonical Allele Identifier: CA14383218
Gene: TBX2 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.61406405C>T
GRCh37 chr17:g.59483766C>T
gnomAD v2:
17:59483766 C / T
gnomAD v3:
17:61406405 C / T
gnomAD v4:
chr17-61406405-C-T
Joint Max Group AF 0.71707743 (NFE)
Genomes Max Group AF 0.71703392 (NFE)
Exomes Max Group AF 0.59502868 (NFE)
dbSNP:
8068318
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61406405C>T , CM000679.2:g.61406405C>T GRCh38
NC_000017.10:g.59483766C>T , CM000679.1:g.59483766C>T GRCh37
NC_000017.9:g.56838548C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240328.4:c.1686+569C>T MANE Select ENSP00000240328.3:n.1686+569C>T
ENST00000240328.3:c.1686+569C>T ENSP00000240328.3:n.1686+569C>T
ENST00000419047.5:c.*1223+569C>T ENSP00000404781.1:n.*1223+569C>T
ENST00000477081.1:n.2499C>T
NM_005994.3:c.1686+569C>T NP_005985.3:n.1686+569C>T
XM_011525158.1:c.1686+569C>T XP_011523460.1:n.1686+569C>T
XM_011525159.1:c.1008+569C>T XP_011523461.1:n.1008+569C>T
NM_005994.4:c.1686+569C>T MANE Select NP_005985.3:n.1686+569C>T
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