Canonical Allele Identifier: CA2684106868

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627468-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627469_100627470del , CM000669.2:g.100627469_100627470del	GRCh38
NC_000007.13:g.100225092_100225093del , CM000669.1:g.100225092_100225093del	GRCh37
NC_000007.12:g.100063028_100063029del	NCBI36
NG_007989.1:g.19081_19082del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1789_1790del MANE Select	ENSP00000223051.3:p.Leu597AlafsTer8
ENST00000223051.7:c.1789_1790del	ENSP00000223051.3:p.Leu597AlafsTer8
ENST00000431692.5:c.*464_*465del	ENSP00000413905.1:n.*464_*465del
ENST00000461176.1:n.135_136del
ENST00000462090.5:n.825_826del
ENST00000462107.1:c.1789_1790del	ENSP00000420525.1:p.Leu597AlafsTer8
ENST00000465294.5:n.1709_1710del
ENST00000473374.5:n.862_863del
ENST00000476304.5:n.1410_1411del
ENST00000490084.5:c.1142_1143del
NM_001206855.1:c.1276_1277del	NP_001193784.1:p.Leu426AlafsTer8
NM_003227.3:c.1789_1790del	NP_003218.2:p.Leu597AlafsTer8
XM_005250553.3:c.1789_1790del	XP_005250610.1:p.Leu597AlafsTer8
XM_005250554.3:c.1789_1790del	XP_005250611.1:p.Leu597AlafsTer8
XR_927814.1:n.434-3687_434-3686del
NM_001206855.2:c.1276_1277del	NP_001193784.1:p.Leu426AlafsTer8
XM_005250553.4:c.1789_1790del	XP_005250610.1:p.Leu597AlafsTer8
XM_017012573.1:c.1789_1790del	XP_016868062.1:p.Leu597AlafsTer8
NM_003227.4:c.1789_1790del MANE Select	NP_003218.2:p.Leu597AlafsTer8
NM_001206855.3:c.1276_1277del	NP_001193784.1:p.Leu426AlafsTer8