Canonical Allele Identifier: CA4386179

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1072553
• ClinVar RCV Id: RCV003473958
• dbSNP Id: rs777027788
• ExAC: 7:100218649 T / TC
• gnomAD v2: 7-100218649-T-TC
• gnomAD v3: 7-100621026-T-TC
• gnomAD v4: 7-100621026-T-TC
• MyVariant Identifiers: chr7:g.100218649_100218650insC (hg19) ; chr7:g.100621026_100621027insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621028dup , CM000669.2:g.100621028dup	GRCh38
NC_000007.13:g.100218651dup , CM000669.1:g.100218651dup	GRCh37
NC_000007.12:g.100056587dup	NCBI36
NG_007989.1:g.25524dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2236dup MANE Select	ENSP00000223051.3:p.Asp746GlyfsTer?
ENST00000223051.7:c.2236dup	ENSP00000223051.3:p.Asp746GlyfsTer?
ENST00000431692.5:c.*911dup	ENSP00000413905.1:n.*911dup
ENST00000462090.5:n.1272dup
ENST00000462107.1:c.2236dup	ENSP00000420525.1:p.Asp746GlyfsTer?
ENST00000465294.5:n.2156dup
ENST00000476304.5:n.1857dup
ENST00000490084.5:c.1589dup
NM_001206855.1:c.1723dup	NP_001193784.1:p.Asp575GlyfsTer?
NM_003227.3:c.2236dup	NP_003218.2:p.Asp746GlyfsTer?
XM_005250553.3:c.2236dup	XP_005250610.1:p.Asp746GlyfsTer?
NM_001206855.2:c.1723dup	NP_001193784.1:p.Asp575GlyfsTer?
XM_005250553.4:c.2236dup	XP_005250610.1:p.Asp746GlyfsTer?
XM_017012573.1:c.2236dup	XP_016868062.1:p.Asp746GlyfsTer?
NM_003227.4:c.2236dup MANE Select	NP_003218.2:p.Asp746GlyfsTer?
NM_001206855.3:c.1723dup	NP_001193784.1:p.Asp575GlyfsTer?