Canonical Allele Identifier: CA456749821
Gene: TFR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.100230624C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633001C>T , CM000669.2:g.100633001C>T GRCh38
NC_000007.13:g.100230624C>T , CM000669.1:g.100230624C>T GRCh37
NC_000007.12:g.100068560C>T NCBI36
NG_007989.1:g.13550G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000223051.8:c.849G>A MANE Select ENSP00000223051.3:p.Lys283=
ENST00000223051.7:c.849G>A ENSP00000223051.3:p.Lys283=
ENST00000431692.5:c.849G>A ENSP00000413905.1:p.Lys283=
ENST00000462090.5:n.90G>A
ENST00000462107.1:c.849G>A ENSP00000420525.1:p.Lys283=
ENST00000465294.5:n.854G>A
ENST00000473374.5:n.299G>A
ENST00000473571.1:n.303G>A
ENST00000475011.1:n.378G>A
ENST00000476304.5:n.470G>A
ENST00000490084.5:c.104G>A
NM_001206855.1:c.336G>A NP_001193784.1:p.Lys112=
NM_003227.3:c.849G>A NP_003218.2:p.Lys283=
XM_005250553.3:c.849G>A XP_005250610.1:p.Lys283=
XM_005250554.3:c.849G>A XP_005250611.1:p.Lys283=
XR_927814.1:n.582C>T
NM_001206855.2:c.336G>A NP_001193784.1:p.Lys112=
XM_005250553.4:c.849G>A XP_005250610.1:p.Lys283=
XM_017012573.1:c.849G>A XP_016868062.1:p.Lys283=
NM_003227.4:c.849G>A MANE Select NP_003218.2:p.Lys283=
NM_001206855.3:c.336G>A NP_001193784.1:p.Lys112=