Canonical Allele Identifier: CA2497214318

Gene: TFR2

Linked Data

• dbSNP Id: rs1803358314

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100629213_100629214insCCAGGCCTA , CM000669.2:g.100629213_100629214insCCAGGCCTA	GRCh38
NC_000007.13:g.100226836_100226837insCCAGGCCTA , CM000669.1:g.100226836_100226837insCCAGGCCTA	GRCh37
NC_000007.12:g.100064772_100064773insCCAGGCCTA	NCBI36
NG_007989.1:g.17337_17338insTAGGCCTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.1390+39_1390+40insTAGGCCTGG MANE Select	ENSP00000223051.3:n.1390+39_1390+40insTAG...
ENST00000223051.7:c.1390+39_1390+40insTAGGCCTGG	ENSP00000223051.3:n.1390+39_1390+40insTAG...
ENST00000431692.5:c.*65+39_*65+40insTAGGCCTGG	ENSP00000413905.1:n.*65+39_*65+40insTAGGC...
ENST00000462090.5:n.255-908_255-907insTAGGCCTGG
ENST00000462107.1:c.1390+39_1390+40insTAGGCCTGG	ENSP00000420525.1:n.1390+39_1390+40insTAG...
ENST00000465294.5:n.1138+39_1138+40insTAGGCCTGG
ENST00000473374.5:n.464-908_464-907insTAGGCCTGG
ENST00000473963.1:n.420-908_420-907insTAGGCCTGG
ENST00000476304.5:n.1011+39_1011+40insTAGGCCTGG
ENST00000490084.5:c.743+39_743+40insTAGGCCTGG
NM_001206855.1:c.877+39_877+40insTAGGCCTGG	NP_001193784.1:n.877+39_877+40insTAGGCCTG...
NM_003227.3:c.1390+39_1390+40insTAGGCCTGG	NP_003218.2:n.1390+39_1390+40insTAGGCCTGG...
XM_005250553.3:c.1390+39_1390+40insTAGGCCTGG	XP_005250610.1:n.1390+39_1390+40insTAGGCC...
XM_005250554.3:c.1390+39_1390+40insTAGGCCTGG	XP_005250611.1:n.1390+39_1390+40insTAGGCC...
XR_927814.1:n.434-1943_434-1942insCCAGGCCTA
NM_001206855.2:c.877+39_877+40insTAGGCCTGG	NP_001193784.1:n.877+39_877+40insTAGGCCTG...
XM_005250553.4:c.1390+39_1390+40insTAGGCCTGG	XP_005250610.1:n.1390+39_1390+40insTAGGCC...
XM_017012573.1:c.1390+39_1390+40insTAGGCCTGG	XP_016868062.1:n.1390+39_1390+40insTAGGCC...
NM_003227.4:c.1390+39_1390+40insTAGGCCTGG MANE Select	NP_003218.2:n.1390+39_1390+40insTAGGCCTGG...
NM_001206855.3:c.877+39_877+40insTAGGCCTGG	NP_001193784.1:n.877+39_877+40insTAGGCCTG...