Canonical Allele Identifier: CA341984
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21371
dbSNP Id: rs80338890

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100621127C>T , CM000669.2:g.100621127C>T GRCh38
NC_000007.13:g.100218750C>T , CM000669.1:g.100218750C>T GRCh37
NC_000007.12:g.100056686C>T NCBI36
NG_007989.1:g.25424G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.2137-1G>A MANE Select ENSP00000223051.3:n.2137-1G>A
ENST00000223051.7:c.2137-1G>A ENSP00000223051.3:n.2137-1G>A
ENST00000431692.5:c.*812-1G>A ENSP00000413905.1:n.*812-1G>A
ENST00000462090.5:n.1173-1G>A
ENST00000462107.1:c.2137-1G>A ENSP00000420525.1:n.2137-1G>A
ENST00000465294.5:n.2057-1G>A
ENST00000476304.5:n.1758-1G>A
ENST00000490084.5:c.1490-1G>A
NM_001206855.1:c.1624-1G>A NP_001193784.1:n.1624-1G>A
NM_003227.3:c.2137-1G>A NP_003218.2:n.2137-1G>A
XM_005250553.3:c.2137-1G>A XP_005250610.1:n.2137-1G>A
NM_001206855.2:c.1624-1G>A NP_001193784.1:n.1624-1G>A
XM_005250553.4:c.2137-1G>A XP_005250610.1:n.2137-1G>A
XM_017012573.1:c.2137-1G>A XP_016868062.1:n.2137-1G>A
NM_003227.4:c.2137-1G>A MANE Select NP_003218.2:n.2137-1G>A
NM_001206855.3:c.1624-1G>A NP_001193784.1:n.1624-1G>A