Canonical Allele Identifier: CA368525387
Gene: TFR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100627455C>T , CM000669.2:g.100627455C>T GRCh38
NC_000007.13:g.100225078C>T , CM000669.1:g.100225078C>T GRCh37
NC_000007.12:g.100063014C>T NCBI36
NG_007989.1:g.19096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.1804G>A MANE Select ENSP00000223051.3:p.Asp602Asn
ENST00000223051.7:c.1804G>A ENSP00000223051.3:p.Asp602Asn
ENST00000431692.5:c.*479G>A ENSP00000413905.1:n.*479G>A
ENST00000461176.1:n.150G>A
ENST00000462090.5:n.840G>A
ENST00000462107.1:c.1804G>A ENSP00000420525.1:p.Asp602Asn
ENST00000465294.5:n.1724G>A
ENST00000473374.5:n.877G>A
ENST00000476304.5:n.1425G>A
ENST00000490084.5:c.1157G>A
NM_001206855.1:c.1291G>A NP_001193784.1:p.Asp431Asn
NM_003227.3:c.1804G>A NP_003218.2:p.Asp602Asn
XM_005250553.3:c.1804G>A XP_005250610.1:p.Asp602Asn
XM_005250554.3:c.1804G>A XP_005250611.1:p.Asp602Asn
XR_927814.1:n.434-3701C>T
NM_001206855.2:c.1291G>A NP_001193784.1:p.Asp431Asn
XM_005250553.4:c.1804G>A XP_005250610.1:p.Asp602Asn
XM_017012573.1:c.1804G>A XP_016868062.1:p.Asp602Asn
NM_003227.4:c.1804G>A MANE Select NP_003218.2:p.Asp602Asn
NM_001206855.3:c.1291G>A NP_001193784.1:p.Asp431Asn