Canonical Allele Identifier: CA576450428

Gene: TFR2

Linked Data

• dbSNP Id: rs1358200229
• gnomAD v2: 7-100224382-T-A
• gnomAD v4: 7-100626759-T-A
• MyVariant Identifiers: chr7:g.100224382T>A (hg19) ; chr7:g.100626759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626759T>A , CM000669.2:g.100626759T>A	GRCh38
NC_000007.13:g.100224382T>A , CM000669.1:g.100224382T>A	GRCh37
NC_000007.12:g.100062318T>A	NCBI36
NG_007989.1:g.19792A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2136+4A>T MANE Select	ENSP00000223051.3:n.2136+4A>T
ENST00000223051.7:c.2136+4A>T	ENSP00000223051.3:n.2136+4A>T
ENST00000431692.5:c.*811+4A>T	ENSP00000413905.1:n.*811+4A>T
ENST00000461176.1:n.486A>T
ENST00000462090.5:n.1172+4A>T
ENST00000462107.1:c.2136+4A>T	ENSP00000420525.1:n.2136+4A>T
ENST00000465294.5:n.2056+4A>T
ENST00000476304.5:n.1757+4A>T
ENST00000490084.5:c.1489+4A>T
NM_001206855.1:c.1623+4A>T	NP_001193784.1:n.1623+4A>T
NM_003227.3:c.2136+4A>T	NP_003218.2:n.2136+4A>T
XM_005250553.3:c.2136+4A>T	XP_005250610.1:n.2136+4A>T
XM_005250554.3:c.2136+4A>T	XP_005250611.1:n.2136+4A>T
XR_927814.1:n.433+4205T>A
NM_001206855.2:c.1623+4A>T	NP_001193784.1:n.1623+4A>T
XM_005250553.4:c.2136+4A>T	XP_005250610.1:n.2136+4A>T
XM_017012573.1:c.2136+4A>T	XP_016868062.1:n.2136+4A>T
NM_003227.4:c.2136+4A>T MANE Select	NP_003218.2:n.2136+4A>T
NM_001206855.3:c.1623+4A>T	NP_001193784.1:n.1623+4A>T