Canonical Allele Identifier: CA368522831

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626825-T-C
• MyVariant Identifiers: chr7:g.100224448T>C (hg19) ; chr7:g.100626825T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626825T>C , CM000669.2:g.100626825T>C	GRCh38
NC_000007.13:g.100224448T>C , CM000669.1:g.100224448T>C	GRCh37
NC_000007.12:g.100062384T>C	NCBI36
NG_007989.1:g.19726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2074A>G MANE Select	ENSP00000223051.3:p.Ile692Val
ENST00000223051.7:c.2074A>G	ENSP00000223051.3:p.Ile692Val
ENST00000431692.5:c.*749A>G	ENSP00000413905.1:n.*749A>G
ENST00000461176.1:n.420A>G
ENST00000462090.5:n.1110A>G
ENST00000462107.1:c.2074A>G	ENSP00000420525.1:p.Ile692Val
ENST00000465294.5:n.1994A>G
ENST00000476304.5:n.1695A>G
ENST00000490084.5:c.1427A>G
NM_001206855.1:c.1561A>G	NP_001193784.1:p.Ile521Val
NM_003227.3:c.2074A>G	NP_003218.2:p.Ile692Val
XM_005250553.3:c.2074A>G	XP_005250610.1:p.Ile692Val
XM_005250554.3:c.2074A>G	XP_005250611.1:p.Ile692Val
XR_927814.1:n.433+4271T>C
NM_001206855.2:c.1561A>G	NP_001193784.1:p.Ile521Val
XM_005250553.4:c.2074A>G	XP_005250610.1:p.Ile692Val
XM_017012573.1:c.2074A>G	XP_016868062.1:p.Ile692Val
NM_003227.4:c.2074A>G MANE Select	NP_003218.2:p.Ile692Val
NM_001206855.3:c.1561A>G	NP_001193784.1:p.Ile521Val