Canonical Allele Identifier: CA368533499
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633003T>A , CM000669.2:g.100633003T>A GRCh38
NC_000007.13:g.100230626T>A , CM000669.1:g.100230626T>A GRCh37
NC_000007.12:g.100068562T>A NCBI36
NG_007989.1:g.13548A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.847A>T MANE Select ENSP00000223051.3:p.Lys283Ter
ENST00000223051.7:c.847A>T ENSP00000223051.3:p.Lys283Ter
ENST00000431692.5:c.847A>T ENSP00000413905.1:p.Lys283Ter
ENST00000462090.5:n.88A>T
ENST00000462107.1:c.847A>T ENSP00000420525.1:p.Lys283Ter
ENST00000465294.5:n.852A>T
ENST00000473374.5:n.297A>T
ENST00000473571.1:n.301A>T
ENST00000475011.1:n.376A>T
ENST00000476304.5:n.468A>T
ENST00000490084.5:c.102A>T
NM_001206855.1:c.334A>T NP_001193784.1:p.Lys112Ter
NM_003227.3:c.847A>T NP_003218.2:p.Lys283Ter
XM_005250553.3:c.847A>T XP_005250610.1:p.Lys283Ter
XM_005250554.3:c.847A>T XP_005250611.1:p.Lys283Ter
XR_927814.1:n.584T>A
NM_001206855.2:c.334A>T NP_001193784.1:p.Lys112Ter
XM_005250553.4:c.847A>T XP_005250610.1:p.Lys283Ter
XM_017012573.1:c.847A>T XP_016868062.1:p.Lys283Ter
NM_003227.4:c.847A>T MANE Select NP_003218.2:p.Lys283Ter
NM_001206855.3:c.334A>T NP_001193784.1:p.Lys112Ter