Canonical Allele Identifier: CA2684109424

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633173-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633175_100633176del , CM000669.2:g.100633175_100633176del	GRCh38
NC_000007.13:g.100230798_100230799del , CM000669.1:g.100230798_100230799del	GRCh37
NC_000007.12:g.100068734_100068735del	NCBI36
NG_007989.1:g.13376_13377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.727-52_727-51del MANE Select	ENSP00000223051.3:n.727-52_727-51del
ENST00000223051.7:c.727-52_727-51del	ENSP00000223051.3:n.727-52_727-51del
ENST00000431692.5:c.727-52_727-51del	ENSP00000413905.1:n.727-52_727-51del
ENST00000462107.1:c.727-52_727-51del	ENSP00000420525.1:n.727-52_727-51del
ENST00000465294.5:n.732-52_732-51del
ENST00000473374.5:n.177-52_177-51del
ENST00000473571.1:n.181-52_181-51del
ENST00000475011.1:n.256-52_256-51del
ENST00000476304.5:n.348-52_348-51del
NM_001206855.1:c.214-52_214-51del	NP_001193784.1:n.214-52_214-51del
NM_003227.3:c.727-52_727-51del	NP_003218.2:n.727-52_727-51del
XM_005250553.3:c.727-52_727-51del	XP_005250610.1:n.727-52_727-51del
XM_005250554.3:c.727-52_727-51del	XP_005250611.1:n.727-52_727-51del
NM_001206855.2:c.214-52_214-51del	NP_001193784.1:n.214-52_214-51del
XM_005250553.4:c.727-52_727-51del	XP_005250610.1:n.727-52_727-51del
XM_017012573.1:c.727-52_727-51del	XP_016868062.1:n.727-52_727-51del
NM_003227.4:c.727-52_727-51del MANE Select	NP_003218.2:n.727-52_727-51del
NM_001206855.3:c.214-52_214-51del	NP_001193784.1:n.214-52_214-51del