Canonical Allele Identifier: CA10627769

Gene: TFR2

Linked Data

• ClinVar Variation Id: 358280
• ClinVar RCV Id: RCV000349060
• dbSNP Id: rs560786834
• gnomAD v3: 7-100620637-G-A
• gnomAD v4: 7-100620637-G-A
• MyVariant Identifiers: chr7:g.100218260G>A (hg19) ; chr7:g.100620637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620637G>A , CM000669.2:g.100620637G>A	GRCh38
NC_000007.13:g.100218260G>A , CM000669.1:g.100218260G>A	GRCh37
NC_000007.12:g.100056196G>A	NCBI36
NG_007989.1:g.25914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*220C>T MANE Select	ENSP00000223051.3:n.*220C>T
ENST00000223051.7:c.*220C>T	ENSP00000223051.3:n.*220C>T
ENST00000431692.5:c.*1301C>T	ENSP00000413905.1:n.*1301C>T
ENST00000462090.5:n.1662C>T
ENST00000462107.1:c.*220C>T	ENSP00000420525.1:n.*220C>T
ENST00000465294.5:n.2546C>T
ENST00000476304.5:n.2247C>T
ENST00000490084.5:c.1979C>T
NM_001206855.1:c.*220C>T	NP_001193784.1:n.*220C>T
NM_003227.3:c.*220C>T	NP_003218.2:n.*220C>T
XM_005250553.3:c.*220C>T	XP_005250610.1:n.*220C>T
NM_001206855.2:c.*220C>T	NP_001193784.1:n.*220C>T
XM_005250553.4:c.*220C>T	XP_005250610.1:n.*220C>T
XM_017012573.1:c.*220C>T	XP_016868062.1:n.*220C>T
NM_003227.4:c.*220C>T MANE Select	NP_003218.2:n.*220C>T
NM_001206855.3:c.*220C>T	NP_001193784.1:n.*220C>T