Canonical Allele Identifier: CA2684106641

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627013-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627013_100627014insAG , CM000669.2:g.100627013_100627014insAG	GRCh38
NC_000007.13:g.100224636_100224637insAG , CM000669.1:g.100224636_100224637insAG	GRCh37
NC_000007.12:g.100062572_100062573insAG	NCBI36
NG_007989.1:g.19537_19538insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-111_1996-110insCT MANE Select	ENSP00000223051.3:n.1996-111_1996-110insCT
ENST00000223051.7:c.1996-111_1996-110insCT	ENSP00000223051.3:n.1996-111_1996-110insCT
ENST00000431692.5:c.*671-111_*671-110insCT	ENSP00000413905.1:n.*671-111_*671-110insCT
ENST00000461176.1:n.342-111_342-110insCT
ENST00000462090.5:n.1032-111_1032-110insCT
ENST00000462107.1:c.1996-111_1996-110insCT	ENSP00000420525.1:n.1996-111_1996-110insCT
ENST00000465294.5:n.1916-111_1916-110insCT
ENST00000476304.5:n.1617-111_1617-110insCT
ENST00000490084.5:c.1349-111_1349-110insCT
NM_001206855.1:c.1483-111_1483-110insCT	NP_001193784.1:n.1483-111_1483-110insCT
NM_003227.3:c.1996-111_1996-110insCT	NP_003218.2:n.1996-111_1996-110insCT
XM_005250553.3:c.1996-111_1996-110insCT	XP_005250610.1:n.1996-111_1996-110insCT
XM_005250554.3:c.1996-111_1996-110insCT	XP_005250611.1:n.1996-111_1996-110insCT
XR_927814.1:n.434-4143_434-4142insAG
NM_001206855.2:c.1483-111_1483-110insCT	NP_001193784.1:n.1483-111_1483-110insCT
XM_005250553.4:c.1996-111_1996-110insCT	XP_005250610.1:n.1996-111_1996-110insCT
XM_017012573.1:c.1996-111_1996-110insCT	XP_016868062.1:n.1996-111_1996-110insCT
NM_003227.4:c.1996-111_1996-110insCT MANE Select	NP_003218.2:n.1996-111_1996-110insCT
NM_001206855.3:c.1483-111_1483-110insCT	NP_001193784.1:n.1483-111_1483-110insCT