Canonical Allele Identifier: CA2715563906

Gene: TFR2

Linked Data

• dbSNP Id: rs2131311419

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627022_100627028del , CM000669.2:g.100627022_100627028del	GRCh38
NC_000007.13:g.100224645_100224651del , CM000669.1:g.100224645_100224651del	GRCh37
NC_000007.12:g.100062581_100062587del	NCBI36
NG_007989.1:g.19529_19535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-119_1996-113del MANE Select	ENSP00000223051.3:n.1996-119_1996-113del
ENST00000223051.7:c.1996-119_1996-113del	ENSP00000223051.3:n.1996-119_1996-113del
ENST00000431692.5:c.*671-119_*671-113del	ENSP00000413905.1:n.*671-119_*671-113del
ENST00000461176.1:n.342-119_342-113del
ENST00000462090.5:n.1032-119_1032-113del
ENST00000462107.1:c.1996-119_1996-113del	ENSP00000420525.1:n.1996-119_1996-113del
ENST00000465294.5:n.1916-119_1916-113del
ENST00000476304.5:n.1617-119_1617-113del
ENST00000490084.5:c.1349-119_1349-113del
NM_001206855.1:c.1483-119_1483-113del	NP_001193784.1:n.1483-119_1483-113del
NM_003227.3:c.1996-119_1996-113del	NP_003218.2:n.1996-119_1996-113del
XM_005250553.3:c.1996-119_1996-113del	XP_005250610.1:n.1996-119_1996-113del
XM_005250554.3:c.1996-119_1996-113del	XP_005250611.1:n.1996-119_1996-113del
XR_927814.1:n.434-4134_434-4128del
NM_001206855.2:c.1483-119_1483-113del	NP_001193784.1:n.1483-119_1483-113del
XM_005250553.4:c.1996-119_1996-113del	XP_005250610.1:n.1996-119_1996-113del
XM_017012573.1:c.1996-119_1996-113del	XP_016868062.1:n.1996-119_1996-113del
NM_003227.4:c.1996-119_1996-113del MANE Select	NP_003218.2:n.1996-119_1996-113del
NM_001206855.3:c.1483-119_1483-113del	NP_001193784.1:n.1483-119_1483-113del