Canonical Allele Identifier: CA4386754

Gene: TFR2

Linked Data

• ClinVar Variation Id: 358296
• ClinVar RCV Id: RCV000311647 ; RCV002524513
• dbSNP Id: rs775428895
• ExAC: 7:100230904 G / A
• gnomAD v2: 7-100230904-G-A
• gnomAD v3: 7-100633281-G-A
• gnomAD v4: 7-100633281-G-A
• MyVariant Identifiers: chr7:g.100230904G>A (hg19) ; chr7:g.100633281G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633281G>A , CM000669.2:g.100633281G>A	GRCh38
NC_000007.13:g.100230904G>A , CM000669.1:g.100230904G>A	GRCh37
NC_000007.12:g.100068840G>A	NCBI36
NG_007989.1:g.13270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.674C>T MANE Select	ENSP00000223051.3:p.Pro225Leu
ENST00000223051.7:c.674C>T	ENSP00000223051.3:p.Pro225Leu
ENST00000431692.5:c.674C>T	ENSP00000413905.1:p.Pro225Leu
ENST00000462107.1:c.674C>T	ENSP00000420525.1:p.Pro225Leu
ENST00000465294.5:n.679C>T
ENST00000473374.5:n.124C>T
ENST00000473571.1:n.128C>T
ENST00000475011.1:n.203C>T
ENST00000476304.5:n.295C>T
NM_001206855.1:c.161C>T	NP_001193784.1:p.Pro54Leu
NM_003227.3:c.674C>T	NP_003218.2:p.Pro225Leu
XM_005250553.3:c.674C>T	XP_005250610.1:p.Pro225Leu
XM_005250554.3:c.674C>T	XP_005250611.1:p.Pro225Leu
NM_001206855.2:c.161C>T	NP_001193784.1:p.Pro54Leu
XM_005250553.4:c.674C>T	XP_005250610.1:p.Pro225Leu
XM_017012573.1:c.674C>T	XP_016868062.1:p.Pro225Leu
NM_003227.4:c.674C>T MANE Select	NP_003218.2:p.Pro225Leu
NM_001206855.3:c.161C>T	NP_001193784.1:p.Pro54Leu