Canonical Allele Identifier: CA340407
Gene: TFR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5380
ClinVar RCV Id: RCV000005711
dbSNP Id: rs80338880

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633100G>C , CM000669.2:g.100633100G>C GRCh38
NC_000007.13:g.100230723G>C , CM000669.1:g.100230723G>C GRCh37
NC_000007.12:g.100068659G>C NCBI36
NG_007989.1:g.13451C>G

Transcript Alleles

HGVS Amino-acid change
NM_001206855.1:c.237C>G VV NP_001193784.1:p.Tyr79Ter
NM_003227.3:c.750C>G VV NP_003218.2:p.Tyr250Ter
XM_005250553.3:c.750C>G XP_005250610.1:p.Tyr250Ter
XM_005250554.3:c.750C>G XP_005250611.1:p.Tyr250Ter
NM_001206855.2:c.237C>G VV NP_001193784.1:p.Tyr79Ter
XM_005250553.4:c.750C>G XP_005250610.1:p.Tyr250Ter
XM_017012573.1:c.750C>G XP_016868062.1:p.Tyr250Ter
NM_003227.4:c.750C>G VV MANE Preferred NP_003218.2:p.Tyr250Ter
ENST00000223051.7:c.750C>G ENSP00000223051.3:p.Tyr250Ter
ENST00000431692.5:c.750C>G ENSP00000413905.1:p.Tyr250Ter
ENST00000462107.1:c.750C>G ENSP00000420525.1:p.Tyr250Ter
ENST00000465294.5:n.755C>G
ENST00000473374.5:n.200C>G
ENST00000473571.1:n.204C>G
ENST00000475011.1:n.279C>G
ENST00000476304.5:n.371C>G
ENST00000490084.5:n.5C>G