Canonical Allele Identifier: CA2684106453

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626726-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626726G>T , CM000669.2:g.100626726G>T	GRCh38
NC_000007.13:g.100224349G>T , CM000669.1:g.100224349G>T	GRCh37
NC_000007.12:g.100062285G>T	NCBI36
NG_007989.1:g.19825C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2136+37C>A MANE Select	ENSP00000223051.3:n.2136+37C>A
ENST00000223051.7:c.2136+37C>A	ENSP00000223051.3:n.2136+37C>A
ENST00000431692.5:c.*811+37C>A	ENSP00000413905.1:n.*811+37C>A
ENST00000461176.1:n.519C>A
ENST00000462090.5:n.1172+37C>A
ENST00000462107.1:c.2136+37C>A	ENSP00000420525.1:n.2136+37C>A
ENST00000465294.5:n.2056+37C>A
ENST00000476304.5:n.1757+37C>A
ENST00000490084.5:c.1489+37C>A
NM_001206855.1:c.1623+37C>A	NP_001193784.1:n.1623+37C>A
NM_003227.3:c.2136+37C>A	NP_003218.2:n.2136+37C>A
XM_005250553.3:c.2136+37C>A	XP_005250610.1:n.2136+37C>A
XM_005250554.3:c.2136+37C>A	XP_005250611.1:n.2136+37C>A
XR_927814.1:n.433+4172G>T
NM_001206855.2:c.1623+37C>A	NP_001193784.1:n.1623+37C>A
XM_005250553.4:c.2136+37C>A	XP_005250610.1:n.2136+37C>A
XM_017012573.1:c.2136+37C>A	XP_016868062.1:n.2136+37C>A
NM_003227.4:c.2136+37C>A MANE Select	NP_003218.2:n.2136+37C>A
NM_001206855.3:c.1623+37C>A	NP_001193784.1:n.1623+37C>A