Canonical Allele Identifier: CA1105064185

Gene: TFR2

Linked Data

• dbSNP Id: rs1803128426
• gnomAD v3: 7-100622132-C-T
• gnomAD v4: 7-100622132-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100622132C>T , CM000669.2:g.100622132C>T	GRCh38
NC_000007.13:g.100219755C>T , CM000669.1:g.100219755C>T	GRCh37
NC_000007.12:g.100057691C>T	NCBI36
NG_007989.1:g.24419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2137-1006G>A MANE Select	ENSP00000223051.3:n.2137-1006G>A
ENST00000223051.7:c.2137-1006G>A	ENSP00000223051.3:n.2137-1006G>A
ENST00000431692.5:c.*812-1006G>A	ENSP00000413905.1:n.*812-1006G>A
ENST00000462090.5:n.1173-1006G>A
ENST00000462107.1:c.2137-1006G>A	ENSP00000420525.1:n.2137-1006G>A
ENST00000465294.5:n.2057-1006G>A
ENST00000476304.5:n.1758-1006G>A
ENST00000490084.5:c.1490-1006G>A
NM_001206855.1:c.1624-1006G>A	NP_001193784.1:n.1624-1006G>A
NM_003227.3:c.2137-1006G>A	NP_003218.2:n.2137-1006G>A
XM_005250553.3:c.2137-1006G>A	XP_005250610.1:n.2137-1006G>A
XR_927814.1:n.11C>T
NM_001206855.2:c.1624-1006G>A	NP_001193784.1:n.1624-1006G>A
XM_005250553.4:c.2137-1006G>A	XP_005250610.1:n.2137-1006G>A
XM_017012573.1:c.2137-1006G>A	XP_016868062.1:n.2137-1006G>A
NM_003227.4:c.2137-1006G>A MANE Select	NP_003218.2:n.2137-1006G>A
NM_001206855.3:c.1624-1006G>A	NP_001193784.1:n.1624-1006G>A