Canonical Allele Identifier: CA456894475

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1590257
• ClinVar RCV Id: RCV002119591
• dbSNP Id: rs2131312099
• gnomAD v4: 7-100627426-C-T
• MyVariant Identifiers: chr7:g.100225049C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627426C>T , CM000669.2:g.100627426C>T	GRCh38
NC_000007.13:g.100225049C>T , CM000669.1:g.100225049C>T	GRCh37
NC_000007.12:g.100062985C>T	NCBI36
NG_007989.1:g.19125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1833G>A MANE Select	ENSP00000223051.3:p.Leu611=
ENST00000223051.7:c.1833G>A	ENSP00000223051.3:p.Leu611=
ENST00000431692.5:c.*508G>A	ENSP00000413905.1:n.*508G>A
ENST00000461176.1:n.179G>A
ENST00000462090.5:n.869G>A
ENST00000462107.1:c.1833G>A	ENSP00000420525.1:p.Leu611=
ENST00000465294.5:n.1753G>A
ENST00000476304.5:n.1454G>A
ENST00000490084.5:c.1186G>A
NM_001206855.1:c.1320G>A	NP_001193784.1:p.Leu440=
NM_003227.3:c.1833G>A	NP_003218.2:p.Leu611=
XM_005250553.3:c.1833G>A	XP_005250610.1:p.Leu611=
XM_005250554.3:c.1833G>A	XP_005250611.1:p.Leu611=
XR_927814.1:n.434-3730C>T
NM_001206855.2:c.1320G>A	NP_001193784.1:p.Leu440=
XM_005250553.4:c.1833G>A	XP_005250610.1:p.Leu611=
XM_017012573.1:c.1833G>A	XP_016868062.1:p.Leu611=
NM_003227.4:c.1833G>A MANE Select	NP_003218.2:p.Leu611=
NM_001206855.3:c.1320G>A	NP_001193784.1:p.Leu440=