Canonical Allele Identifier: CA4386465

Gene: TFR2

Linked Data

• dbSNP Id: rs770380557
• ExAC: 7:100226834 A / AC
• gnomAD v2: 7-100226834-A-AC
• gnomAD v3: 7-100629211-A-AC
• gnomAD v4: 7-100629211-A-AC
• MyVariant Identifiers: chr7:g.100226834_100226835insC (hg19) ; chr7:g.100629211_100629212insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100629213dup , CM000669.2:g.100629213dup	GRCh38
NC_000007.13:g.100226836dup , CM000669.1:g.100226836dup	GRCh37
NC_000007.12:g.100064772dup	NCBI36
NG_007989.1:g.17339dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.1390+41dup MANE Select	ENSP00000223051.3:n.1390+41dup
ENST00000223051.7:c.1390+41dup	ENSP00000223051.3:n.1390+41dup
ENST00000431692.5:c.*65+41dup	ENSP00000413905.1:n.*65+41dup
ENST00000462090.5:n.255-906dup
ENST00000462107.1:c.1390+41dup	ENSP00000420525.1:n.1390+41dup
ENST00000465294.5:n.1138+41dup
ENST00000473374.5:n.464-906dup
ENST00000473963.1:n.420-906dup
ENST00000476304.5:n.1011+41dup
ENST00000490084.5:c.743+41dup
NM_001206855.1:c.877+41dup	NP_001193784.1:n.877+41dup
NM_003227.3:c.1390+41dup	NP_003218.2:n.1390+41dup
XM_005250553.3:c.1390+41dup	XP_005250610.1:n.1390+41dup
XM_005250554.3:c.1390+41dup	XP_005250611.1:n.1390+41dup
XR_927814.1:n.434-1943dup
NM_001206855.2:c.877+41dup	NP_001193784.1:n.877+41dup
XM_005250553.4:c.1390+41dup	XP_005250610.1:n.1390+41dup
XM_017012573.1:c.1390+41dup	XP_016868062.1:n.1390+41dup
NM_003227.4:c.1390+41dup MANE Select	NP_003218.2:n.1390+41dup
NM_001206855.3:c.877+41dup	NP_001193784.1:n.877+41dup