Canonical Allele Identifier: CA2578963356

Gene: TFR2

Linked Data

• gnomAD v4: 7-100627563-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627563G>T , CM000669.2:g.100627563G>T	GRCh38
NC_000007.13:g.100225186G>T , CM000669.1:g.100225186G>T	GRCh37
NC_000007.12:g.100063122G>T	NCBI36
NG_007989.1:g.18988C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1767+14C>A MANE Select	ENSP00000223051.3:n.1767+14C>A
ENST00000223051.7:c.1767+14C>A	ENSP00000223051.3:n.1767+14C>A
ENST00000431692.5:c.*442+14C>A	ENSP00000413905.1:n.*442+14C>A
ENST00000461176.1:n.42C>A
ENST00000462090.5:n.732C>A
ENST00000462107.1:c.1767+14C>A	ENSP00000420525.1:n.1767+14C>A
ENST00000465294.5:n.1616C>A
ENST00000473374.5:n.840+14C>A
ENST00000476304.5:n.1388+14C>A
ENST00000490084.5:c.1120+14C>A
NM_001206855.1:c.1254+14C>A	NP_001193784.1:n.1254+14C>A
NM_003227.3:c.1767+14C>A	NP_003218.2:n.1767+14C>A
XM_005250553.3:c.1767+14C>A	XP_005250610.1:n.1767+14C>A
XM_005250554.3:c.1767+14C>A	XP_005250611.1:n.1767+14C>A
XR_927814.1:n.434-3593G>T
NM_001206855.2:c.1254+14C>A	NP_001193784.1:n.1254+14C>A
XM_005250553.4:c.1767+14C>A	XP_005250610.1:n.1767+14C>A
XM_017012573.1:c.1767+14C>A	XP_016868062.1:n.1767+14C>A
NM_003227.4:c.1767+14C>A MANE Select	NP_003218.2:n.1767+14C>A
NM_001206855.3:c.1254+14C>A	NP_001193784.1:n.1254+14C>A