Canonical Allele Identifier: CA4386732

Gene: TFR2

Linked Data

• dbSNP Id: rs760861828
• ExAC: 7:100230790 TTCGAGACCC / T
• gnomAD v2: 7-100230790-TTCGAGACCC-T
• gnomAD v4: 7-100633167-TTCGAGACCC-T
• MyVariant Identifiers: chr7:g.100230791_100230799del (hg19) ; chr7:g.100633168_100633176del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633168_100633176del , CM000669.2:g.100633168_100633176del	GRCh38
NC_000007.13:g.100230791_100230799del , CM000669.1:g.100230791_100230799del	GRCh37
NC_000007.12:g.100068727_100068735del	NCBI36
NG_007989.1:g.13375_13383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.727-53_727-45del MANE Select	ENSP00000223051.3:n.727-53_727-45del
ENST00000223051.7:c.727-53_727-45del	ENSP00000223051.3:n.727-53_727-45del
ENST00000431692.5:c.727-53_727-45del	ENSP00000413905.1:n.727-53_727-45del
ENST00000462107.1:c.727-53_727-45del	ENSP00000420525.1:n.727-53_727-45del
ENST00000465294.5:n.732-53_732-45del
ENST00000473374.5:n.177-53_177-45del
ENST00000473571.1:n.181-53_181-45del
ENST00000475011.1:n.256-53_256-45del
ENST00000476304.5:n.348-53_348-45del
NM_001206855.1:c.214-53_214-45del	NP_001193784.1:n.214-53_214-45del
NM_003227.3:c.727-53_727-45del	NP_003218.2:n.727-53_727-45del
XM_005250553.3:c.727-53_727-45del	XP_005250610.1:n.727-53_727-45del
XM_005250554.3:c.727-53_727-45del	XP_005250611.1:n.727-53_727-45del
NM_001206855.2:c.214-53_214-45del	NP_001193784.1:n.214-53_214-45del
XM_005250553.4:c.727-53_727-45del	XP_005250610.1:n.727-53_727-45del
XM_017012573.1:c.727-53_727-45del	XP_016868062.1:n.727-53_727-45del
NM_003227.4:c.727-53_727-45del MANE Select	NP_003218.2:n.727-53_727-45del
NM_001206855.3:c.214-53_214-45del	NP_001193784.1:n.214-53_214-45del