Canonical Allele Identifier: CA4386300

Gene: TFR2

Linked Data

• dbSNP Id: rs764366227
• ExAC: 7:100225276 G / GGCC
• gnomAD v2: 7-100225276-G-GGCC
• gnomAD v3: 7-100627653-G-GGCC
• gnomAD v4: 7-100627653-G-GGCC
• MyVariant Identifiers: chr7:g.100225276_100225277insGCC (hg19) ; chr7:g.100627653_100627654insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627655_100627657dup , CM000669.2:g.100627655_100627657dup	GRCh38
NC_000007.13:g.100225278_100225280dup , CM000669.1:g.100225278_100225280dup	GRCh37
NC_000007.12:g.100063214_100063216dup	NCBI36
NG_007989.1:g.18895_18897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1688_1690dup MANE Select	ENSP00000223051.3:p.Arg563_Pro564insArg
ENST00000223051.7:c.1688_1690dup	ENSP00000223051.3:p.Arg563_Pro564insArg
ENST00000431692.5:c.*363_*365dup	ENSP00000413905.1:n.*363_*365dup
ENST00000462090.5:n.639_641dup
ENST00000462107.1:c.1688_1690dup	ENSP00000420525.1:p.Arg563_Pro564insArg
ENST00000465294.5:n.1523_1525dup
ENST00000473374.5:n.761_763dup
ENST00000473963.1:n.717_719dup
ENST00000476304.5:n.1309_1311dup
ENST00000490084.5:c.1041_1043dup
NM_001206855.1:c.1175_1177dup	NP_001193784.1:p.Arg392_Pro393insArg
NM_003227.3:c.1688_1690dup	NP_003218.2:p.Arg563_Pro564insArg
XM_005250553.3:c.1688_1690dup	XP_005250610.1:p.Arg563_Pro564insArg
XM_005250554.3:c.1688_1690dup	XP_005250611.1:p.Arg563_Pro564insArg
XR_927814.1:n.434-3501_434-3499dup
NM_001206855.2:c.1175_1177dup	NP_001193784.1:p.Arg392_Pro393insArg
XM_005250553.4:c.1688_1690dup	XP_005250610.1:p.Arg563_Pro564insArg
XM_017012573.1:c.1688_1690dup	XP_016868062.1:p.Arg563_Pro564insArg
NM_003227.4:c.1688_1690dup MANE Select	NP_003218.2:p.Arg563_Pro564insArg
NM_001206855.3:c.1175_1177dup	NP_001193784.1:p.Arg392_Pro393insArg