Canonical Allele Identifier: CA4386702

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2077757
• ClinVar RCV Id: RCV002985691
• dbSNP Id: rs140150109
• ExAC: 7:100230656 C / T
• gnomAD v2: 7-100230656-C-T
• gnomAD v3: 7-100633033-C-T
• gnomAD v4: 7-100633033-C-T
• MyVariant Identifiers: chr7:g.100230656C>T (hg19) ; chr7:g.100633033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633033C>T , CM000669.2:g.100633033C>T	GRCh38
NC_000007.13:g.100230656C>T , CM000669.1:g.100230656C>T	GRCh37
NC_000007.12:g.100068592C>T	NCBI36
NG_007989.1:g.13518G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.817G>A MANE Select	ENSP00000223051.3:p.Val273Met
ENST00000223051.7:c.817G>A	ENSP00000223051.3:p.Val273Met
ENST00000431692.5:c.817G>A	ENSP00000413905.1:p.Val273Met
ENST00000462090.5:n.58G>A
ENST00000462107.1:c.817G>A	ENSP00000420525.1:p.Val273Met
ENST00000465294.5:n.822G>A
ENST00000473374.5:n.267G>A
ENST00000473571.1:n.271G>A
ENST00000475011.1:n.346G>A
ENST00000476304.5:n.438G>A
ENST00000490084.5:c.72G>A
NM_001206855.1:c.304G>A	NP_001193784.1:p.Val102Met
NM_003227.3:c.817G>A	NP_003218.2:p.Val273Met
XM_005250553.3:c.817G>A	XP_005250610.1:p.Val273Met
XM_005250554.3:c.817G>A	XP_005250611.1:p.Val273Met
NM_001206855.2:c.304G>A	NP_001193784.1:p.Val102Met
XM_005250553.4:c.817G>A	XP_005250610.1:p.Val273Met
XM_017012573.1:c.817G>A	XP_016868062.1:p.Val273Met
NM_003227.4:c.817G>A MANE Select	NP_003218.2:p.Val273Met
NM_001206855.3:c.304G>A	NP_001193784.1:p.Val102Met