Canonical Allele Identifier: CA918086096

Gene: TFR2

Linked Data

• dbSNP Id: rs1584455851
• gnomAD v4: 7-100627137-GGGTTAATGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627138_100627148del , CM000669.2:g.100627138_100627148del	GRCh38
NC_000007.13:g.100224761_100224771del , CM000669.1:g.100224761_100224771del	GRCh37
NC_000007.12:g.100062697_100062707del	NCBI36
NG_007989.1:g.19403_19413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1995+116_1995+126del MANE Select	ENSP00000223051.3:n.1995+116_1995+126del
ENST00000223051.7:c.1995+116_1995+126del	ENSP00000223051.3:n.1995+116_1995+126del
ENST00000431692.5:c.*670+116_*670+126del	ENSP00000413905.1:n.*670+116_*670+126del
ENST00000461176.1:n.341+116_341+126del
ENST00000462090.5:n.1031+116_1031+126del
ENST00000462107.1:c.1995+116_1995+126del	ENSP00000420525.1:n.1995+116_1995+126del
ENST00000465294.5:n.1915+116_1915+126del
ENST00000476304.5:n.1616+116_1616+126del
ENST00000490084.5:c.1348+116_1348+126del
NM_001206855.1:c.1482+116_1482+126del	NP_001193784.1:n.1482+116_1482+126del
NM_003227.3:c.1995+116_1995+126del	NP_003218.2:n.1995+116_1995+126del
XM_005250553.3:c.1995+116_1995+126del	XP_005250610.1:n.1995+116_1995+126del
XM_005250554.3:c.1995+116_1995+126del	XP_005250611.1:n.1995+116_1995+126del
XR_927814.1:n.434-4018_434-4008del
NM_001206855.2:c.1482+116_1482+126del	NP_001193784.1:n.1482+116_1482+126del
XM_005250553.4:c.1995+116_1995+126del	XP_005250610.1:n.1995+116_1995+126del
XM_017012573.1:c.1995+116_1995+126del	XP_016868062.1:n.1995+116_1995+126del
NM_003227.4:c.1995+116_1995+126del MANE Select	NP_003218.2:n.1995+116_1995+126del
NM_001206855.3:c.1482+116_1482+126del	NP_001193784.1:n.1482+116_1482+126del