Canonical Allele Identifier: CA576450503

Gene: TFR2

Linked Data

• dbSNP Id: rs1364159069
• gnomAD v2: 7-100224643-GGGA-G
• gnomAD v3: 7-100627020-GGGA-G
• gnomAD v4: 7-100627020-GGGA-G
• MyVariant Identifiers: chr7:g.100224644_100224646del (hg19) ; chr7:g.100627021_100627023del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627026_100627028del , CM000669.2:g.100627026_100627028del	GRCh38
NC_000007.13:g.100224649_100224651del , CM000669.1:g.100224649_100224651del	GRCh37
NC_000007.12:g.100062585_100062587del	NCBI36
NG_007989.1:g.19528_19530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1996-120_1996-118del MANE Select	ENSP00000223051.3:n.1996-120_1996-118del
ENST00000223051.7:c.1996-120_1996-118del	ENSP00000223051.3:n.1996-120_1996-118del
ENST00000431692.5:c.*671-120_*671-118del	ENSP00000413905.1:n.*671-120_*671-118del
ENST00000461176.1:n.342-120_342-118del
ENST00000462090.5:n.1032-120_1032-118del
ENST00000462107.1:c.1996-120_1996-118del	ENSP00000420525.1:n.1996-120_1996-118del
ENST00000465294.5:n.1916-120_1916-118del
ENST00000476304.5:n.1617-120_1617-118del
ENST00000490084.5:c.1349-120_1349-118del
NM_001206855.1:c.1483-120_1483-118del	NP_001193784.1:n.1483-120_1483-118del
NM_003227.3:c.1996-120_1996-118del	NP_003218.2:n.1996-120_1996-118del
XM_005250553.3:c.1996-120_1996-118del	XP_005250610.1:n.1996-120_1996-118del
XM_005250554.3:c.1996-120_1996-118del	XP_005250611.1:n.1996-120_1996-118del
XR_927814.1:n.434-4130_434-4128del
NM_001206855.2:c.1483-120_1483-118del	NP_001193784.1:n.1483-120_1483-118del
XM_005250553.4:c.1996-120_1996-118del	XP_005250610.1:n.1996-120_1996-118del
XM_017012573.1:c.1996-120_1996-118del	XP_016868062.1:n.1996-120_1996-118del
NM_003227.4:c.1996-120_1996-118del MANE Select	NP_003218.2:n.1996-120_1996-118del
NM_001206855.3:c.1483-120_1483-118del	NP_001193784.1:n.1483-120_1483-118del