Canonical Allele Identifier: CA4386712

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1168449
• ClinVar RCV Id: RCV001518713 ; RCV001826375
• dbSNP Id: rs200287731
• ExAC: 7:100230706 A / C
• gnomAD v2: 7-100230706-A-C
• gnomAD v3: 7-100633083-A-C
• gnomAD v4: 7-100633083-A-C
• MyVariant Identifiers: chr7:g.100230706A>C (hg19) ; chr7:g.100633083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633083A>C , CM000669.2:g.100633083A>C	GRCh38
NC_000007.13:g.100230706A>C , CM000669.1:g.100230706A>C	GRCh37
NC_000007.12:g.100068642A>C	NCBI36
NG_007989.1:g.13468T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.767T>G MANE Select	ENSP00000223051.3:p.Leu256Arg
ENST00000223051.7:c.767T>G	ENSP00000223051.3:p.Leu256Arg
ENST00000431692.5:c.767T>G	ENSP00000413905.1:p.Leu256Arg
ENST00000462090.5:n.8T>G
ENST00000462107.1:c.767T>G	ENSP00000420525.1:p.Leu256Arg
ENST00000465294.5:n.772T>G
ENST00000473374.5:n.217T>G
ENST00000473571.1:n.221T>G
ENST00000475011.1:n.296T>G
ENST00000476304.5:n.388T>G
ENST00000490084.5:c.22T>G
NM_001206855.1:c.254T>G	NP_001193784.1:p.Leu85Arg
NM_003227.3:c.767T>G	NP_003218.2:p.Leu256Arg
XM_005250553.3:c.767T>G	XP_005250610.1:p.Leu256Arg
XM_005250554.3:c.767T>G	XP_005250611.1:p.Leu256Arg
NM_001206855.2:c.254T>G	NP_001193784.1:p.Leu85Arg
XM_005250553.4:c.767T>G	XP_005250610.1:p.Leu256Arg
XM_017012573.1:c.767T>G	XP_016868062.1:p.Leu256Arg
NM_003227.4:c.767T>G MANE Select	NP_003218.2:p.Leu256Arg
NM_001206855.3:c.254T>G	NP_001193784.1:p.Leu85Arg