Canonical Allele Identifier: CA4386292

Gene: TFR2

Linked Data

• ClinVar Variation Id: 909030
• ClinVar RCV Id: RCV001159883
• dbSNP Id: rs370375593
• ExAC: 7:100225220 C / T
• gnomAD v2: 7-100225220-C-T
• gnomAD v3: 7-100627597-C-T
• gnomAD v4: 7-100627597-C-T
• MyVariant Identifiers: chr7:g.100225220C>T (hg19) ; chr7:g.100627597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627597C>T , CM000669.2:g.100627597C>T	GRCh38
NC_000007.13:g.100225220C>T , CM000669.1:g.100225220C>T	GRCh37
NC_000007.12:g.100063156C>T	NCBI36
NG_007989.1:g.18954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1747G>A MANE Select	ENSP00000223051.3:p.Val583Ile
ENST00000223051.7:c.1747G>A	ENSP00000223051.3:p.Val583Ile
ENST00000431692.5:c.*422G>A	ENSP00000413905.1:n.*422G>A
ENST00000461176.1:n.8G>A
ENST00000462090.5:n.698G>A
ENST00000462107.1:c.1747G>A	ENSP00000420525.1:p.Val583Ile
ENST00000465294.5:n.1582G>A
ENST00000473374.5:n.820G>A
ENST00000476304.5:n.1368G>A
ENST00000490084.5:c.1100G>A
NM_001206855.1:c.1234G>A	NP_001193784.1:p.Val412Ile
NM_003227.3:c.1747G>A	NP_003218.2:p.Val583Ile
XM_005250553.3:c.1747G>A	XP_005250610.1:p.Val583Ile
XM_005250554.3:c.1747G>A	XP_005250611.1:p.Val583Ile
XR_927814.1:n.434-3559C>T
NM_001206855.2:c.1234G>A	NP_001193784.1:p.Val412Ile
XM_005250553.4:c.1747G>A	XP_005250610.1:p.Val583Ile
XM_017012573.1:c.1747G>A	XP_016868062.1:p.Val583Ile
NM_003227.4:c.1747G>A MANE Select	NP_003218.2:p.Val583Ile
NM_001206855.3:c.1234G>A	NP_001193784.1:p.Val412Ile