Canonical Allele Identifier: CA350771

Gene: TFR2

Linked Data

• ClinVar Variation Id: 219806
• ClinVar RCV Id: RCV001853281
• dbSNP Id: rs369355407
• ExAC: 7:100218640 C / T
• gnomAD v2: 7-100218640-C-T
• gnomAD v3: 7-100621017-C-T
• gnomAD v4: 7-100621017-C-T
• MyVariant Identifiers: chr7:g.100218640C>T (hg19) ; chr7:g.100621017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621017C>T , CM000669.2:g.100621017C>T	GRCh38
NC_000007.13:g.100218640C>T , CM000669.1:g.100218640C>T	GRCh37
NC_000007.12:g.100056576C>T	NCBI36
NG_007989.1:g.25534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2246G>A MANE Select	ENSP00000223051.3:p.Arg749Gln
ENST00000223051.7:c.2246G>A	ENSP00000223051.3:p.Arg749Gln
ENST00000431692.5:c.*921G>A	ENSP00000413905.1:n.*921G>A
ENST00000462090.5:n.1282G>A
ENST00000462107.1:c.2246G>A	ENSP00000420525.1:p.Arg749Gln
ENST00000465294.5:n.2166G>A
ENST00000476304.5:n.1867G>A
ENST00000490084.5:c.1599G>A
NM_001206855.1:c.1733G>A	NP_001193784.1:p.Arg578Gln
NM_003227.3:c.2246G>A	NP_003218.2:p.Arg749Gln
XM_005250553.3:c.2246G>A	XP_005250610.1:p.Arg749Gln
NM_001206855.2:c.1733G>A	NP_001193784.1:p.Arg578Gln
XM_005250553.4:c.2246G>A	XP_005250610.1:p.Arg749Gln
XM_017012573.1:c.2246G>A	XP_016868062.1:p.Arg749Gln
NM_003227.4:c.2246G>A MANE Select	NP_003218.2:p.Arg749Gln
NM_001206855.3:c.1733G>A	NP_001193784.1:p.Arg578Gln