Canonical Allele Identifier: CA2684106607

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626997-G-GTCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626997_100626998insTCCCA , CM000669.2:g.100626997_100626998insTCCCA	GRCh38
NC_000007.13:g.100224620_100224621insTCCCA , CM000669.1:g.100224620_100224621insTCCCA	GRCh37
NC_000007.12:g.100062556_100062557insTCCCA	NCBI36
NG_007989.1:g.19553_19554insTGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-95_1996-94insTGGGA MANE Select	ENSP00000223051.3:n.1996-95_1996-94insTGGGA
ENST00000223051.7:c.1996-95_1996-94insTGGGA	ENSP00000223051.3:n.1996-95_1996-94insTGGGA
ENST00000431692.5:c.*671-95_*671-94insTGGGA	ENSP00000413905.1:n.*671-95_*671-94insTGGGA
ENST00000461176.1:n.342-95_342-94insTGGGA
ENST00000462090.5:n.1032-95_1032-94insTGGGA
ENST00000462107.1:c.1996-95_1996-94insTGGGA	ENSP00000420525.1:n.1996-95_1996-94insTGGGA
ENST00000465294.5:n.1916-95_1916-94insTGGGA
ENST00000476304.5:n.1617-95_1617-94insTGGGA
ENST00000490084.5:c.1349-95_1349-94insTGGGA
NM_001206855.1:c.1483-95_1483-94insTGGGA	NP_001193784.1:n.1483-95_1483-94insTGGGA
NM_003227.3:c.1996-95_1996-94insTGGGA	NP_003218.2:n.1996-95_1996-94insTGGGA
XM_005250553.3:c.1996-95_1996-94insTGGGA	XP_005250610.1:n.1996-95_1996-94insTGGGA
XM_005250554.3:c.1996-95_1996-94insTGGGA	XP_005250611.1:n.1996-95_1996-94insTGGGA
XR_927814.1:n.434-4159_434-4158insTCCCA
NM_001206855.2:c.1483-95_1483-94insTGGGA	NP_001193784.1:n.1483-95_1483-94insTGGGA
XM_005250553.4:c.1996-95_1996-94insTGGGA	XP_005250610.1:n.1996-95_1996-94insTGGGA
XM_017012573.1:c.1996-95_1996-94insTGGGA	XP_016868062.1:n.1996-95_1996-94insTGGGA
NM_003227.4:c.1996-95_1996-94insTGGGA MANE Select	NP_003218.2:n.1996-95_1996-94insTGGGA
NM_001206855.3:c.1483-95_1483-94insTGGGA	NP_001193784.1:n.1483-95_1483-94insTGGGA