Canonical Allele Identifier: CA4386306

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1921719
• ClinVar RCV Id: RCV002621425
• dbSNP Id: rs200217701
• ExAC: 7:100225297 G / A
• gnomAD v2: 7-100225297-G-A
• gnomAD v3: 7-100627674-G-A
• gnomAD v4: 7-100627674-G-A
• MyVariant Identifiers: chr7:g.100225297G>A (hg19) ; chr7:g.100627674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627674G>A , CM000669.2:g.100627674G>A	GRCh38
NC_000007.13:g.100225297G>A , CM000669.1:g.100225297G>A	GRCh37
NC_000007.12:g.100063233G>A	NCBI36
NG_007989.1:g.18877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1683-13C>T MANE Select	ENSP00000223051.3:n.1683-13C>T
ENST00000223051.7:c.1683-13C>T	ENSP00000223051.3:n.1683-13C>T
ENST00000431692.5:c.*358-13C>T	ENSP00000413905.1:n.*358-13C>T
ENST00000462090.5:n.634-13C>T
ENST00000462107.1:c.1683-13C>T	ENSP00000420525.1:n.1683-13C>T
ENST00000465294.5:n.1518-13C>T
ENST00000473374.5:n.756-13C>T
ENST00000473963.1:n.712-13C>T
ENST00000476304.5:n.1304-13C>T
ENST00000490084.5:c.1036-13C>T
NM_001206855.1:c.1170-13C>T	NP_001193784.1:n.1170-13C>T
NM_003227.3:c.1683-13C>T	NP_003218.2:n.1683-13C>T
XM_005250553.3:c.1683-13C>T	XP_005250610.1:n.1683-13C>T
XM_005250554.3:c.1683-13C>T	XP_005250611.1:n.1683-13C>T
XR_927814.1:n.434-3482G>A
NM_001206855.2:c.1170-13C>T	NP_001193784.1:n.1170-13C>T
XM_005250553.4:c.1683-13C>T	XP_005250610.1:n.1683-13C>T
XM_017012573.1:c.1683-13C>T	XP_016868062.1:n.1683-13C>T
NM_003227.4:c.1683-13C>T MANE Select	NP_003218.2:n.1683-13C>T
NM_001206855.3:c.1170-13C>T	NP_001193784.1:n.1170-13C>T