Canonical Allele Identifier: CA4386209
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 698356
ClinVar RCV Id: RCV000865729
dbSNP Id: rs759013995

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100626754G>T , CM000669.2:g.100626754G>T GRCh38
NC_000007.13:g.100224377G>T , CM000669.1:g.100224377G>T GRCh37
NC_000007.12:g.100062313G>T NCBI36
NG_007989.1:g.19797C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2136+9C>A MANE Select ENSP00000223051.3:n.2136+9C>A
ENST00000223051.7:c.2136+9C>A ENSP00000223051.3:n.2136+9C>A
ENST00000431692.5:c.*811+9C>A ENSP00000413905.1:n.*811+9C>A
ENST00000461176.1:n.491C>A
ENST00000462090.5:n.1172+9C>A
ENST00000462107.1:c.2136+9C>A ENSP00000420525.1:n.2136+9C>A
ENST00000465294.5:n.2056+9C>A
ENST00000476304.5:n.1757+9C>A
ENST00000490084.5:c.1489+9C>A
NM_001206855.1:c.1623+9C>A NP_001193784.1:n.1623+9C>A
NM_003227.3:c.2136+9C>A NP_003218.2:n.2136+9C>A
XM_005250553.3:c.2136+9C>A XP_005250610.1:n.2136+9C>A
XM_005250554.3:c.2136+9C>A XP_005250611.1:n.2136+9C>A
XR_927814.1:n.433+4200G>T
NM_001206855.2:c.1623+9C>A NP_001193784.1:n.1623+9C>A
XM_005250553.4:c.2136+9C>A XP_005250610.1:n.2136+9C>A
XM_017012573.1:c.2136+9C>A XP_016868062.1:n.2136+9C>A
NM_003227.4:c.2136+9C>A MANE Select NP_003218.2:n.2136+9C>A
NM_001206855.3:c.1623+9C>A NP_001193784.1:n.1623+9C>A