Canonical Allele Identifier: CA2777154279

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620688_100620709del , CM000669.2:g.100620688_100620709del	GRCh38
NC_000007.13:g.100218311_100218332del , CM000669.1:g.100218311_100218332del	GRCh37
NC_000007.12:g.100056247_100056268del	NCBI36
NG_007989.1:g.25844_25865del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*150_*171del MANE Select	ENSP00000223051.3:n.*150_*171del
ENST00000223051.7:c.*150_*171del	ENSP00000223051.3:n.*150_*171del
ENST00000431692.5:c.*1231_*1252del	ENSP00000413905.1:n.*1231_*1252del
ENST00000462090.5:n.1592_1613del
ENST00000462107.1:c.*150_*171del	ENSP00000420525.1:n.*150_*171del
ENST00000465294.5:n.2476_2497del
ENST00000476304.5:n.2177_2198del
ENST00000490084.5:c.1909_1930del
NM_001206855.1:c.*150_*171del	NP_001193784.1:n.*150_*171del
NM_003227.3:c.*150_*171del	NP_003218.2:n.*150_*171del
XM_005250553.3:c.*150_*171del	XP_005250610.1:n.*150_*171del
NM_001206855.2:c.*150_*171del	NP_001193784.1:n.*150_*171del
XM_005250553.4:c.*150_*171del	XP_005250610.1:n.*150_*171del
XM_017012573.1:c.*150_*171del	XP_016868062.1:n.*150_*171del
NM_003227.4:c.*150_*171del MANE Select	NP_003218.2:n.*150_*171del
NM_001206855.3:c.*150_*171del	NP_001193784.1:n.*150_*171del