Canonical Allele Identifier: CA2570747314

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633395_100633397dup , CM000669.2:g.100633395_100633397dup	GRCh38
NC_000007.13:g.100231018_100231020dup , CM000669.1:g.100231018_100231020dup	GRCh37
NC_000007.12:g.100068954_100068956dup	NCBI36
NG_007989.1:g.13157_13159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+22_614+24dup MANE Select	ENSP00000223051.3:n.614+22_614+24dup
ENST00000223051.7:c.614+22_614+24dup	ENSP00000223051.3:n.614+22_614+24dup
ENST00000431692.5:c.614+22_614+24dup	ENSP00000413905.1:n.614+22_614+24dup
ENST00000462107.1:c.614+22_614+24dup	ENSP00000420525.1:n.614+22_614+24dup
ENST00000465294.5:n.619+22_619+24dup
ENST00000473374.5:n.11_13dup
ENST00000473571.1:n.15_17dup
ENST00000475011.1:n.143+22_143+24dup
ENST00000476304.5:n.235+22_235+24dup
NM_001206855.1:c.101+22_101+24dup	NP_001193784.1:n.101+22_101+24dup
NM_003227.3:c.614+22_614+24dup	NP_003218.2:n.614+22_614+24dup
XM_005250553.3:c.614+22_614+24dup	XP_005250610.1:n.614+22_614+24dup
XM_005250554.3:c.614+22_614+24dup	XP_005250611.1:n.614+22_614+24dup
NM_001206855.2:c.101+22_101+24dup	NP_001193784.1:n.101+22_101+24dup
XM_005250553.4:c.614+22_614+24dup	XP_005250610.1:n.614+22_614+24dup
XM_017012573.1:c.614+22_614+24dup	XP_016868062.1:n.614+22_614+24dup
NM_003227.4:c.614+22_614+24dup MANE Select	NP_003218.2:n.614+22_614+24dup
NM_001206855.3:c.101+22_101+24dup	NP_001193784.1:n.101+22_101+24dup