Canonical Allele Identifier: CA368534106
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633107G>T , CM000669.2:g.100633107G>T GRCh38
NC_000007.13:g.100230730G>T , CM000669.1:g.100230730G>T GRCh37
NC_000007.12:g.100068666G>T NCBI36
NG_007989.1:g.13444C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.743C>A MANE Select ENSP00000223051.3:p.Ala248Asp
ENST00000223051.7:c.743C>A ENSP00000223051.3:p.Ala248Asp
ENST00000431692.5:c.743C>A ENSP00000413905.1:p.Ala248Asp
ENST00000462107.1:c.743C>A ENSP00000420525.1:p.Ala248Asp
ENST00000465294.5:n.748C>A
ENST00000473374.5:n.193C>A
ENST00000473571.1:n.197C>A
ENST00000475011.1:n.272C>A
ENST00000476304.5:n.364C>A
NM_001206855.1:c.230C>A NP_001193784.1:p.Ala77Asp
NM_003227.3:c.743C>A NP_003218.2:p.Ala248Asp
XM_005250553.3:c.743C>A XP_005250610.1:p.Ala248Asp
XM_005250554.3:c.743C>A XP_005250611.1:p.Ala248Asp
NM_001206855.2:c.230C>A NP_001193784.1:p.Ala77Asp
XM_005250553.4:c.743C>A XP_005250610.1:p.Ala248Asp
XM_017012573.1:c.743C>A XP_016868062.1:p.Ala248Asp
NM_003227.4:c.743C>A MANE Select NP_003218.2:p.Ala248Asp
NM_001206855.3:c.230C>A NP_001193784.1:p.Ala77Asp