Canonical Allele Identifier: CA576450412
Gene: TFR2 HGNC NCBI

Linked Data

dbSNP Id: rs745921869

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626743C>A , CM000669.2:g.100626743C>A GRCh38
NC_000007.13:g.100224366C>A , CM000669.1:g.100224366C>A GRCh37
NC_000007.12:g.100062302C>A NCBI36
NG_007989.1:g.19808G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2136+20G>T MANE Select ENSP00000223051.3:n.2136+20G>T
ENST00000223051.7:c.2136+20G>T ENSP00000223051.3:n.2136+20G>T
ENST00000431692.5:c.*811+20G>T ENSP00000413905.1:n.*811+20G>T
ENST00000461176.1:n.502G>T
ENST00000462090.5:n.1172+20G>T
ENST00000462107.1:c.2136+20G>T ENSP00000420525.1:n.2136+20G>T
ENST00000465294.5:n.2056+20G>T
ENST00000476304.5:n.1757+20G>T
ENST00000490084.5:c.1489+20G>T
NM_001206855.1:c.1623+20G>T NP_001193784.1:n.1623+20G>T
NM_003227.3:c.2136+20G>T NP_003218.2:n.2136+20G>T
XM_005250553.3:c.2136+20G>T XP_005250610.1:n.2136+20G>T
XM_005250554.3:c.2136+20G>T XP_005250611.1:n.2136+20G>T
XR_927814.1:n.433+4189C>A
NM_001206855.2:c.1623+20G>T NP_001193784.1:n.1623+20G>T
XM_005250553.4:c.2136+20G>T XP_005250610.1:n.2136+20G>T
XM_017012573.1:c.2136+20G>T XP_016868062.1:n.2136+20G>T
NM_003227.4:c.2136+20G>T MANE Select NP_003218.2:n.2136+20G>T
NM_001206855.3:c.1623+20G>T NP_001193784.1:n.1623+20G>T