Canonical Allele Identifier: CA2684109454

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633191-GCCGCGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633194_100633200del , CM000669.2:g.100633194_100633200del	GRCh38
NC_000007.13:g.100230817_100230823del , CM000669.1:g.100230817_100230823del	GRCh37
NC_000007.12:g.100068753_100068759del	NCBI36
NG_007989.1:g.13353_13359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.726+31_726+37del MANE Select	ENSP00000223051.3:n.726+31_726+37del
ENST00000223051.7:c.726+31_726+37del	ENSP00000223051.3:n.726+31_726+37del
ENST00000431692.5:c.726+31_726+37del	ENSP00000413905.1:n.726+31_726+37del
ENST00000462107.1:c.726+31_726+37del	ENSP00000420525.1:n.726+31_726+37del
ENST00000465294.5:n.731+31_731+37del
ENST00000473374.5:n.176+31_176+37del
ENST00000473571.1:n.180+31_180+37del
ENST00000475011.1:n.255+31_255+37del
ENST00000476304.5:n.347+31_347+37del
NM_001206855.1:c.213+31_213+37del	NP_001193784.1:n.213+31_213+37del
NM_003227.3:c.726+31_726+37del	NP_003218.2:n.726+31_726+37del
XM_005250553.3:c.726+31_726+37del	XP_005250610.1:n.726+31_726+37del
XM_005250554.3:c.726+31_726+37del	XP_005250611.1:n.726+31_726+37del
NM_001206855.2:c.213+31_213+37del	NP_001193784.1:n.213+31_213+37del
XM_005250553.4:c.726+31_726+37del	XP_005250610.1:n.726+31_726+37del
XM_017012573.1:c.726+31_726+37del	XP_016868062.1:n.726+31_726+37del
NM_003227.4:c.726+31_726+37del MANE Select	NP_003218.2:n.726+31_726+37del
NM_001206855.3:c.213+31_213+37del	NP_001193784.1:n.213+31_213+37del