Canonical Allele Identifier: CA163275734
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs973865454

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626767A>G , CM000669.2:g.100626767A>G GRCh38
NC_000007.13:g.100224390A>G , CM000669.1:g.100224390A>G GRCh37
NC_000007.12:g.100062326A>G NCBI36
NG_007989.1:g.19784T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2132T>C MANE Select ENSP00000223051.3:p.Met711Thr
ENST00000223051.7:c.2132T>C ENSP00000223051.3:p.Met711Thr
ENST00000431692.5:c.*807T>C ENSP00000413905.1:n.*807T>C
ENST00000461176.1:n.478T>C
ENST00000462090.5:n.1168T>C
ENST00000462107.1:c.2132T>C ENSP00000420525.1:p.Met711Thr
ENST00000465294.5:n.2052T>C
ENST00000476304.5:n.1753T>C
ENST00000490084.5:c.1485T>C
NM_001206855.1:c.1619T>C NP_001193784.1:p.Met540Thr
NM_003227.3:c.2132T>C NP_003218.2:p.Met711Thr
XM_005250553.3:c.2132T>C XP_005250610.1:p.Met711Thr
XM_005250554.3:c.2132T>C XP_005250611.1:p.Met711Thr
XR_927814.1:n.433+4213A>G
NM_001206855.2:c.1619T>C NP_001193784.1:p.Met540Thr
XM_005250553.4:c.2132T>C XP_005250610.1:p.Met711Thr
XM_017012573.1:c.2132T>C XP_016868062.1:p.Met711Thr
NM_003227.4:c.2132T>C MANE Select NP_003218.2:p.Met711Thr
NM_001206855.3:c.1619T>C NP_001193784.1:p.Met540Thr