Canonical Allele Identifier: CA2578963360

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627687-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627687C>T , CM000669.2:g.100627687C>T	GRCh38
NC_000007.13:g.100225310C>T , CM000669.1:g.100225310C>T	GRCh37
NC_000007.12:g.100063246C>T	NCBI36
NG_007989.1:g.18864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1683-26G>A MANE Select	ENSP00000223051.3:n.1683-26G>A
ENST00000223051.7:c.1683-26G>A	ENSP00000223051.3:n.1683-26G>A
ENST00000431692.5:c.*358-26G>A	ENSP00000413905.1:n.*358-26G>A
ENST00000462090.5:n.634-26G>A
ENST00000462107.1:c.1683-26G>A	ENSP00000420525.1:n.1683-26G>A
ENST00000465294.5:n.1518-26G>A
ENST00000473374.5:n.756-26G>A
ENST00000473963.1:n.712-26G>A
ENST00000476304.5:n.1304-26G>A
ENST00000490084.5:c.1036-26G>A
NM_001206855.1:c.1170-26G>A	NP_001193784.1:n.1170-26G>A
NM_003227.3:c.1683-26G>A	NP_003218.2:n.1683-26G>A
XM_005250553.3:c.1683-26G>A	XP_005250610.1:n.1683-26G>A
XM_005250554.3:c.1683-26G>A	XP_005250611.1:n.1683-26G>A
XR_927814.1:n.434-3469C>T
NM_001206855.2:c.1170-26G>A	NP_001193784.1:n.1170-26G>A
XM_005250553.4:c.1683-26G>A	XP_005250610.1:n.1683-26G>A
XM_017012573.1:c.1683-26G>A	XP_016868062.1:n.1683-26G>A
NM_003227.4:c.1683-26G>A MANE Select	NP_003218.2:n.1683-26G>A
NM_001206855.3:c.1170-26G>A	NP_001193784.1:n.1170-26G>A