Canonical Allele Identifier: CA576450467

Gene: TFR2

Linked Data

• ClinVar Variation Id: 854136
• ClinVar RCV Id: RCV001059109 ; RCV003473667
• dbSNP Id: rs1562837669
• gnomAD v2: 7-100224483-T-TC
• gnomAD v4: 7-100626860-T-TC
• MyVariant Identifiers: chr7:g.100224484_100224485insC (hg19) ; chr7:g.100626861_100626862insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626866dup , CM000669.2:g.100626866dup	GRCh38
NC_000007.13:g.100224489dup , CM000669.1:g.100224489dup	GRCh37
NC_000007.12:g.100062425dup	NCBI36
NG_007989.1:g.19690dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2038dup MANE Select	ENSP00000223051.3:p.Asp680GlyfsTer?
ENST00000223051.7:c.2038dup	ENSP00000223051.3:p.Asp680GlyfsTer?
ENST00000431692.5:c.*713dup	ENSP00000413905.1:n.*713dup
ENST00000461176.1:n.384dup
ENST00000462090.5:n.1074dup
ENST00000462107.1:c.2038dup	ENSP00000420525.1:p.Asp680GlyfsTer?
ENST00000465294.5:n.1958dup
ENST00000476304.5:n.1659dup
ENST00000490084.5:c.1391dup
NM_001206855.1:c.1525dup	NP_001193784.1:p.Asp509GlyfsTer?
NM_003227.3:c.2038dup	NP_003218.2:p.Asp680GlyfsTer?
XM_005250553.3:c.2038dup	XP_005250610.1:p.Asp680GlyfsTer?
XM_005250554.3:c.2038dup	XP_005250611.1:p.Asp680GlyfsTer?
XR_927814.1:n.434-4290dup
NM_001206855.2:c.1525dup	NP_001193784.1:p.Asp509GlyfsTer?
XM_005250553.4:c.2038dup	XP_005250610.1:p.Asp680GlyfsTer?
XM_017012573.1:c.2038dup	XP_016868062.1:p.Asp680GlyfsTer?
NM_003227.4:c.2038dup MANE Select	NP_003218.2:p.Asp680GlyfsTer?
NM_001206855.3:c.1525dup	NP_001193784.1:p.Asp509GlyfsTer?