Canonical Allele Identifier: CA2684109302

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633094-CCGCCCGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633095_100633101del , CM000669.2:g.100633095_100633101del	GRCh38
NC_000007.13:g.100230718_100230724del , CM000669.1:g.100230718_100230724del	GRCh37
NC_000007.12:g.100068654_100068660del	NCBI36
NG_007989.1:g.13450_13456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.749_755del MANE Select	ENSP00000223051.3:p.Tyr250CysfsTer26
ENST00000223051.7:c.749_755del	ENSP00000223051.3:p.Tyr250CysfsTer26
ENST00000431692.5:c.749_755del	ENSP00000413905.1:p.Tyr250CysfsTer26
ENST00000462107.1:c.749_755del	ENSP00000420525.1:p.Tyr250CysfsTer26
ENST00000465294.5:n.754_760del
ENST00000473374.5:n.199_205del
ENST00000473571.1:n.203_209del
ENST00000475011.1:n.278_284del
ENST00000476304.5:n.370_376del
ENST00000490084.5:c.4_10del
NM_001206855.1:c.236_242del	NP_001193784.1:p.Tyr79CysfsTer26
NM_003227.3:c.749_755del	NP_003218.2:p.Tyr250CysfsTer26
XM_005250553.3:c.749_755del	XP_005250610.1:p.Tyr250CysfsTer26
XM_005250554.3:c.749_755del	XP_005250611.1:p.Tyr250CysfsTer26
NM_001206855.2:c.236_242del	NP_001193784.1:p.Tyr79CysfsTer26
XM_005250553.4:c.749_755del	XP_005250610.1:p.Tyr250CysfsTer26
XM_017012573.1:c.749_755del	XP_016868062.1:p.Tyr250CysfsTer26
NM_003227.4:c.749_755del MANE Select	NP_003218.2:p.Tyr250CysfsTer26
NM_001206855.3:c.236_242del	NP_001193784.1:p.Tyr79CysfsTer26