Canonical Allele Identifier: CA4386803
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2049623
dbSNP Id: rs377287303

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633507G>C , CM000669.2:g.100633507G>C GRCh38
NC_000007.13:g.100231130G>C , CM000669.1:g.100231130G>C GRCh37
NC_000007.12:g.100069066G>C NCBI36
NG_007989.1:g.13044C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.523C>G MANE Select ENSP00000223051.3:p.Leu175Val
ENST00000223051.7:c.523C>G ENSP00000223051.3:p.Leu175Val
ENST00000431692.5:c.523C>G ENSP00000413905.1:p.Leu175Val
ENST00000462107.1:c.523C>G ENSP00000420525.1:p.Leu175Val
ENST00000465294.5:n.528C>G
ENST00000475011.1:n.52C>G
ENST00000476304.5:n.144C>G
NM_001206855.1:c.10C>G NP_001193784.1:p.Leu4Val
NM_003227.3:c.523C>G NP_003218.2:p.Leu175Val
XM_005250553.3:c.523C>G XP_005250610.1:p.Leu175Val
XM_005250554.3:c.523C>G XP_005250611.1:p.Leu175Val
NM_001206855.2:c.10C>G NP_001193784.1:p.Leu4Val
XM_005250553.4:c.523C>G XP_005250610.1:p.Leu175Val
XM_017012573.1:c.523C>G XP_016868062.1:p.Leu175Val
NM_003227.4:c.523C>G MANE Select NP_003218.2:p.Leu175Val
NM_001206855.3:c.10C>G NP_001193784.1:p.Leu4Val