Canonical Allele Identifier: CA12544389
Gene: TFR2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.100642673A>G
GRCh37 chr7:g.100240296A>G
gnomAD v2:
7:100240296 A / G
gnomAD v3:
7:100642673 A / G
gnomAD v4:
chr7-100642673-A-G
Joint Max Group AF 0.7664418 (EAS)
Genomes Max Group AF 0.76332863 (EAS)
Exomes Max Group AF 0.748822 (EAS)
dbSNP:
2075672
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100642673A>G , CM000669.2:g.100642673A>G GRCh38
NC_000007.13:g.100240296A>G , CM000669.1:g.100240296A>G GRCh37
NC_000007.12:g.100078232A>G NCBI36
NG_007989.1:g.3878T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000462107.1:c.-258+18T>C ENSP00000420525.1:n.-258+18T>C
ENST00000474947.1:n.89+18T>C
XM_005250553.3:c.-258+18T>C XP_005250610.1:n.-258+18T>C
XM_005250554.3:c.-258+18T>C XP_005250611.1:n.-258+18T>C
XM_005250553.4:c.-258+18T>C XP_005250610.1:n.-258+18T>C
XM_017012573.1:c.-70+18T>C XP_016868062.1:n.-70+18T>C
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