Canonical Allele Identifier: CA2580595053
Gene: TFR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100638347C>G , CM000669.2:g.100638347C>G GRCh38
NC_000007.13:g.100235970C>G , CM000669.1:g.100235970C>G GRCh37
NC_000007.12:g.100073906C>G NCBI36
NG_007989.1:g.8204G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.473+2339G>C MANE Select ENSP00000223051.3:n.473+2339G>C
ENST00000223051.7:c.473+2339G>C ENSP00000223051.3:n.473+2339G>C
ENST00000431692.5:c.473+2339G>C ENSP00000413905.1:n.473+2339G>C
ENST00000462107.1:c.473+2339G>C ENSP00000420525.1:n.473+2339G>C
ENST00000465294.5:n.478+2339G>C
NM_003227.3:c.473+2339G>C NP_003218.2:n.473+2339G>C
XM_005250553.3:c.473+2339G>C XP_005250610.1:n.473+2339G>C
XM_005250554.3:c.473+2339G>C XP_005250611.1:n.473+2339G>C
XM_005250553.4:c.473+2339G>C XP_005250610.1:n.473+2339G>C
XM_017012573.1:c.473+2339G>C XP_016868062.1:n.473+2339G>C
NM_003227.4:c.473+2339G>C MANE Select NP_003218.2:n.473+2339G>C
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