Canonical Allele Identifier: CA2684105978

Gene: TFR2

Linked Data

• gnomAD v4: 7-100621148-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621149del , CM000669.2:g.100621149del	GRCh38
NC_000007.13:g.100218772del , CM000669.1:g.100218772del	GRCh37
NC_000007.12:g.100056708del	NCBI36
NG_007989.1:g.25402del

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2137-23del MANE Select	ENSP00000223051.3:n.2137-23del
ENST00000223051.7:c.2137-23del	ENSP00000223051.3:n.2137-23del
ENST00000431692.5:c.*812-23del	ENSP00000413905.1:n.*812-23del
ENST00000462090.5:n.1173-23del
ENST00000462107.1:c.2137-23del	ENSP00000420525.1:n.2137-23del
ENST00000465294.5:n.2057-23del
ENST00000476304.5:n.1758-23del
ENST00000490084.5:c.1490-23del
NM_001206855.1:c.1624-23del	NP_001193784.1:n.1624-23del
NM_003227.3:c.2137-23del	NP_003218.2:n.2137-23del
XM_005250553.3:c.2137-23del	XP_005250610.1:n.2137-23del
NM_001206855.2:c.1624-23del	NP_001193784.1:n.1624-23del
XM_005250553.4:c.2137-23del	XP_005250610.1:n.2137-23del
XM_017012573.1:c.2137-23del	XP_016868062.1:n.2137-23del
NM_003227.4:c.2137-23del MANE Select	NP_003218.2:n.2137-23del
NM_001206855.3:c.1624-23del	NP_001193784.1:n.1624-23del