Canonical Allele Identifier: CA368534974
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633516T>G , CM000669.2:g.100633516T>G GRCh38
NC_000007.13:g.100231139T>G , CM000669.1:g.100231139T>G GRCh37
NC_000007.12:g.100069075T>G NCBI36
NG_007989.1:g.13035A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.514A>C MANE Select ENSP00000223051.3:p.Met172Leu
ENST00000223051.7:c.514A>C ENSP00000223051.3:p.Met172Leu
ENST00000431692.5:c.514A>C ENSP00000413905.1:p.Met172Leu
ENST00000462107.1:c.514A>C ENSP00000420525.1:p.Met172Leu
ENST00000465294.5:n.519A>C
ENST00000475011.1:n.43A>C
ENST00000476304.5:n.135A>C
NM_001206855.1:c.1A>C NP_001193784.1:p.Met1Leu
NM_003227.3:c.514A>C NP_003218.2:p.Met172Leu
XM_005250553.3:c.514A>C XP_005250610.1:p.Met172Leu
XM_005250554.3:c.514A>C XP_005250611.1:p.Met172Leu
NM_001206855.2:c.1A>C NP_001193784.1:p.Met1Leu
XM_005250553.4:c.514A>C XP_005250610.1:p.Met172Leu
XM_017012573.1:c.514A>C XP_016868062.1:p.Met172Leu
NM_003227.4:c.514A>C MANE Select NP_003218.2:p.Met172Leu
NM_001206855.3:c.1A>C NP_001193784.1:p.Met1Leu