Canonical Allele Identifier: CA368522867
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626836A>C , CM000669.2:g.100626836A>C GRCh38
NC_000007.13:g.100224459A>C , CM000669.1:g.100224459A>C GRCh37
NC_000007.12:g.100062395A>C NCBI36
NG_007989.1:g.19715T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2063T>G MANE Select ENSP00000223051.3:p.Leu688Arg
ENST00000223051.7:c.2063T>G ENSP00000223051.3:p.Leu688Arg
ENST00000431692.5:c.*738T>G ENSP00000413905.1:n.*738T>G
ENST00000461176.1:n.409T>G
ENST00000462090.5:n.1099T>G
ENST00000462107.1:c.2063T>G ENSP00000420525.1:p.Leu688Arg
ENST00000465294.5:n.1983T>G
ENST00000476304.5:n.1684T>G
ENST00000490084.5:c.1416T>G
NM_001206855.1:c.1550T>G NP_001193784.1:p.Leu517Arg
NM_003227.3:c.2063T>G NP_003218.2:p.Leu688Arg
XM_005250553.3:c.2063T>G XP_005250610.1:p.Leu688Arg
XM_005250554.3:c.2063T>G XP_005250611.1:p.Leu688Arg
XR_927814.1:n.433+4282A>C
NM_001206855.2:c.1550T>G NP_001193784.1:p.Leu517Arg
XM_005250553.4:c.2063T>G XP_005250610.1:p.Leu688Arg
XM_017012573.1:c.2063T>G XP_016868062.1:p.Leu688Arg
NM_003227.4:c.2063T>G MANE Select NP_003218.2:p.Leu688Arg
NM_001206855.3:c.1550T>G NP_001193784.1:p.Leu517Arg