Canonical Allele Identifier: CA456749298

Gene: TFR2

Linked Data

• ClinVar Variation Id: 3013631
• ClinVar RCV Id: RCV003873206
• dbSNP Id: rs1221422629
• gnomAD v2: 7-100224476-G-A
• gnomAD v3: 7-100626853-G-A
• gnomAD v4: 7-100626853-G-A
• MyVariant Identifiers: chr7:g.100224476G>A (hg19) ; chr7:g.100626853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626853G>A , CM000669.2:g.100626853G>A	GRCh38
NC_000007.13:g.100224476G>A , CM000669.1:g.100224476G>A	GRCh37
NC_000007.12:g.100062412G>A	NCBI36
NG_007989.1:g.19698C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2046C>T MANE Select	ENSP00000223051.3:p.Ile682=
ENST00000223051.7:c.2046C>T	ENSP00000223051.3:p.Ile682=
ENST00000431692.5:c.*721C>T	ENSP00000413905.1:n.*721C>T
ENST00000461176.1:n.392C>T
ENST00000462090.5:n.1082C>T
ENST00000462107.1:c.2046C>T	ENSP00000420525.1:p.Ile682=
ENST00000465294.5:n.1966C>T
ENST00000476304.5:n.1667C>T
ENST00000490084.5:c.1399C>T
NM_001206855.1:c.1533C>T	NP_001193784.1:p.Ile511=
NM_003227.3:c.2046C>T	NP_003218.2:p.Ile682=
XM_005250553.3:c.2046C>T	XP_005250610.1:p.Ile682=
XM_005250554.3:c.2046C>T	XP_005250611.1:p.Ile682=
XR_927814.1:n.433+4299G>A
NM_001206855.2:c.1533C>T	NP_001193784.1:p.Ile511=
XM_005250553.4:c.2046C>T	XP_005250610.1:p.Ile682=
XM_017012573.1:c.2046C>T	XP_016868062.1:p.Ile682=
NM_003227.4:c.2046C>T MANE Select	NP_003218.2:p.Ile682=
NM_001206855.3:c.1533C>T	NP_001193784.1:p.Ile511=