Canonical Allele Identifier: CA4386207

Gene: TFR2

Linked Data

• dbSNP Id: rs759907892
• ExAC: 7:100224355 T / TG
• gnomAD v2: 7-100224355-T-TG
• gnomAD v3: 7-100626732-T-TG
• gnomAD v4: 7-100626732-T-TG
• MyVariant Identifiers: chr7:g.100224355_100224356insG (hg19) ; chr7:g.100626732_100626733insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626737dup , CM000669.2:g.100626737dup	GRCh38
NC_000007.13:g.100224360dup , CM000669.1:g.100224360dup	GRCh37
NC_000007.12:g.100062296dup	NCBI36
NG_007989.1:g.19818dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+30dup MANE Select	ENSP00000223051.3:n.2136+30dup
ENST00000223051.7:c.2136+30dup	ENSP00000223051.3:n.2136+30dup
ENST00000431692.5:c.*811+30dup	ENSP00000413905.1:n.*811+30dup
ENST00000461176.1:n.512dup
ENST00000462090.5:n.1172+30dup
ENST00000462107.1:c.2136+30dup	ENSP00000420525.1:n.2136+30dup
ENST00000465294.5:n.2056+30dup
ENST00000476304.5:n.1757+30dup
ENST00000490084.5:c.1489+30dup
NM_001206855.1:c.1623+30dup	NP_001193784.1:n.1623+30dup
NM_003227.3:c.2136+30dup	NP_003218.2:n.2136+30dup
XM_005250553.3:c.2136+30dup	XP_005250610.1:n.2136+30dup
XM_005250554.3:c.2136+30dup	XP_005250611.1:n.2136+30dup
XR_927814.1:n.433+4183dup
NM_001206855.2:c.1623+30dup	NP_001193784.1:n.1623+30dup
XM_005250553.4:c.2136+30dup	XP_005250610.1:n.2136+30dup
XM_017012573.1:c.2136+30dup	XP_016868062.1:n.2136+30dup
NM_003227.4:c.2136+30dup MANE Select	NP_003218.2:n.2136+30dup
NM_001206855.3:c.1623+30dup	NP_001193784.1:n.1623+30dup