Canonical Allele Identifier: CA341997
Gene: TFR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21379
ClinVar RCV Id: RCV000020552
dbSNP Id: rs80338881
MyVariant Identifiers: chr7:g.100229722G>A (hg19) chr7:g.100632099G>A (hg38)
PubMed: PMID:15685557 PMID:20301523
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100632099G>A , CM000669.2:g.100632099G>A GRCh38
NC_000007.13:g.100229722G>A , CM000669.1:g.100229722G>A GRCh37
NC_000007.12:g.100067658G>A NCBI36
NG_007989.1:g.14452C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.949C>T MANE Select ENSP00000223051.3:p.Gln317Ter
ENST00000223051.7:c.949C>T ENSP00000223051.3:p.Gln317Ter
ENST00000431692.5:c.849+902C>T ENSP00000413905.1:n.849+902C>T
ENST00000462090.5:n.90+902C>T
ENST00000462107.1:c.949C>T ENSP00000420525.1:p.Gln317Ter
ENST00000465294.5:n.854+902C>T
ENST00000473374.5:n.299+902C>T
ENST00000473571.1:n.403C>T
ENST00000476304.5:n.570C>T
ENST00000490084.5:c.204C>T
NM_001206855.1:c.436C>T NP_001193784.1:p.Gln146Ter
NM_003227.3:c.949C>T NP_003218.2:p.Gln317Ter
XM_005250553.3:c.949C>T XP_005250610.1:p.Gln317Ter
XM_005250554.3:c.949C>T XP_005250611.1:p.Gln317Ter
XR_927814.1:n.504-824G>A
NM_001206855.2:c.436C>T NP_001193784.1:p.Gln146Ter
XM_005250553.4:c.949C>T XP_005250610.1:p.Gln317Ter
XM_017012573.1:c.949C>T XP_016868062.1:p.Gln317Ter
NM_003227.4:c.949C>T MANE Select NP_003218.2:p.Gln317Ter
NM_001206855.3:c.436C>T NP_001193784.1:p.Gln146Ter
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