Canonical Allele Identifier: CA4386139

Gene: TFR2

Linked Data

• ClinVar Variation Id: 415944
• ClinVar RCV Id: RCV000471273
• dbSNP Id: rs41296645
• ExAC: 7:100218497 T / C
• gnomAD v2: 7-100218497-T-C
• gnomAD v3: 7-100620874-T-C
• gnomAD v4: 7-100620874-T-C
• MyVariant Identifiers: chr7:g.100218497T>C (hg19) ; chr7:g.100620874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620874T>C , CM000669.2:g.100620874T>C	GRCh38
NC_000007.13:g.100218497T>C , CM000669.1:g.100218497T>C	GRCh37
NC_000007.12:g.100056433T>C	NCBI36
NG_007989.1:g.25677A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2389A>G MANE Select	ENSP00000223051.3:p.Ile797Val
ENST00000223051.7:c.2389A>G	ENSP00000223051.3:p.Ile797Val
ENST00000431692.5:c.*1064A>G	ENSP00000413905.1:n.*1064A>G
ENST00000462090.5:n.1425A>G
ENST00000462107.1:c.2389A>G	ENSP00000420525.1:p.Ile797Val
ENST00000465294.5:n.2309A>G
ENST00000476304.5:n.2010A>G
ENST00000490084.5:c.1742A>G
NM_001206855.1:c.1876A>G	NP_001193784.1:p.Ile626Val
NM_003227.3:c.2389A>G	NP_003218.2:p.Ile797Val
XM_005250553.3:c.2389A>G	XP_005250610.1:p.Ile797Val
NM_001206855.2:c.1876A>G	NP_001193784.1:p.Ile626Val
XM_005250553.4:c.2389A>G	XP_005250610.1:p.Ile797Val
XM_017012573.1:c.2389A>G	XP_016868062.1:p.Ile797Val
NM_003227.4:c.2389A>G MANE Select	NP_003218.2:p.Ile797Val
NM_001206855.3:c.1876A>G	NP_001193784.1:p.Ile626Val