Canonical Allele Identifier: CA4386782

Gene: TFR2

Linked Data

• dbSNP Id: rs751429173
• ExAC: 7:100231008 CCG / C
• gnomAD v2: 7-100231008-CCG-C
• MyVariant Identifiers: chr7:g.100231009_100231010del (hg19) ; chr7:g.100633386_100633387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633391_100633392del , CM000669.2:g.100633391_100633392del	GRCh38
NC_000007.13:g.100231014_100231015del , CM000669.1:g.100231014_100231015del	GRCh37
NC_000007.12:g.100068950_100068951del	NCBI36
NG_007989.1:g.13164_13165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.614+29_614+30del MANE Select	ENSP00000223051.3:n.614+29_614+30del
ENST00000223051.7:c.614+29_614+30del	ENSP00000223051.3:n.614+29_614+30del
ENST00000431692.5:c.614+29_614+30del	ENSP00000413905.1:n.614+29_614+30del
ENST00000462107.1:c.614+29_614+30del	ENSP00000420525.1:n.614+29_614+30del
ENST00000465294.5:n.619+29_619+30del
ENST00000473374.5:n.18_19del
ENST00000473571.1:n.22_23del
ENST00000475011.1:n.143+29_143+30del
ENST00000476304.5:n.235+29_235+30del
NM_001206855.1:c.101+29_101+30del	NP_001193784.1:n.101+29_101+30del
NM_003227.3:c.614+29_614+30del	NP_003218.2:n.614+29_614+30del
XM_005250553.3:c.614+29_614+30del	XP_005250610.1:n.614+29_614+30del
XM_005250554.3:c.614+29_614+30del	XP_005250611.1:n.614+29_614+30del
NM_001206855.2:c.101+29_101+30del	NP_001193784.1:n.101+29_101+30del
XM_005250553.4:c.614+29_614+30del	XP_005250610.1:n.614+29_614+30del
XM_017012573.1:c.614+29_614+30del	XP_016868062.1:n.614+29_614+30del
NM_003227.4:c.614+29_614+30del MANE Select	NP_003218.2:n.614+29_614+30del
NM_001206855.3:c.101+29_101+30del	NP_001193784.1:n.101+29_101+30del