Canonical Allele Identifier: CA830501216

Gene: TFR2

Linked Data

• dbSNP Id: rs1462577143
• gnomAD v4: 7-100626807-TCTC-T
• MyVariant Identifiers: chr7:g.100224431_100224433del (hg19) ; chr7:g.100626808_100626810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626812_100626814del , CM000669.2:g.100626812_100626814del	GRCh38
NC_000007.13:g.100224435_100224437del , CM000669.1:g.100224435_100224437del	GRCh37
NC_000007.12:g.100062371_100062373del	NCBI36
NG_007989.1:g.19741_19743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2089_2091del MANE Select	ENSP00000223051.3:p.Glu697del
ENST00000223051.7:c.2089_2091del	ENSP00000223051.3:p.Glu697del
ENST00000431692.5:c.*764_*766del	ENSP00000413905.1:n.*764_*766del
ENST00000461176.1:n.435_437del
ENST00000462090.5:n.1125_1127del
ENST00000462107.1:c.2089_2091del	ENSP00000420525.1:p.Glu697del
ENST00000465294.5:n.2009_2011del
ENST00000476304.5:n.1710_1712del
ENST00000490084.5:c.1442_1444del
NM_001206855.1:c.1576_1578del	NP_001193784.1:p.Glu526del
NM_003227.3:c.2089_2091del	NP_003218.2:p.Glu697del
XM_005250553.3:c.2089_2091del	XP_005250610.1:p.Glu697del
XM_005250554.3:c.2089_2091del	XP_005250611.1:p.Glu697del
XR_927814.1:n.433+4258_433+4260del
NM_001206855.2:c.1576_1578del	NP_001193784.1:p.Glu526del
XM_005250553.4:c.2089_2091del	XP_005250610.1:p.Glu697del
XM_017012573.1:c.2089_2091del	XP_016868062.1:p.Glu697del
NM_003227.4:c.2089_2091del MANE Select	NP_003218.2:p.Glu697del
NM_001206855.3:c.1576_1578del	NP_001193784.1:p.Glu526del