Canonical Allele Identifier: CA4386560

Gene: TFR2

Linked Data

• ClinVar Variation Id: 530394
• ClinVar RCV Id: RCV000636245 ; RCV001829786
• dbSNP Id: rs778433259
• ExAC: 7:100228653 G / A
• gnomAD v2: 7-100228653-G-A
• gnomAD v3: 7-100631030-G-A
• gnomAD v4: 7-100631030-G-A
• MyVariant Identifiers: chr7:g.100228653G>A (hg19) ; chr7:g.100631030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100631030G>A , CM000669.2:g.100631030G>A	GRCh38
NC_000007.13:g.100228653G>A , CM000669.1:g.100228653G>A	GRCh37
NC_000007.12:g.100066589G>A	NCBI36
NG_007989.1:g.15521C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.1129C>T MANE Select	ENSP00000223051.3:p.Pro377Ser
ENST00000223051.7:c.1129C>T	ENSP00000223051.3:p.Pro377Ser
ENST00000431692.5:c.872C>T	ENSP00000413905.1:p.Pro291Leu
ENST00000462090.5:n.113C>T
ENST00000462107.1:c.1129C>T	ENSP00000420525.1:p.Pro377Ser
ENST00000465294.5:n.877C>T
ENST00000473374.5:n.322C>T
ENST00000473571.1:n.583C>T
ENST00000473963.1:n.278C>T
ENST00000476304.5:n.750C>T
ENST00000490084.5:c.482C>T
NM_001206855.1:c.616C>T	NP_001193784.1:p.Pro206Ser
NM_003227.3:c.1129C>T	NP_003218.2:p.Pro377Ser
XM_005250553.3:c.1129C>T	XP_005250610.1:p.Pro377Ser
XM_005250554.3:c.1129C>T	XP_005250611.1:p.Pro377Ser
XR_927814.1:n.434-126G>A
NM_001206855.2:c.616C>T	NP_001193784.1:p.Pro206Ser
XM_005250553.4:c.1129C>T	XP_005250610.1:p.Pro377Ser
XM_017012573.1:c.1129C>T	XP_016868062.1:p.Pro377Ser
NM_003227.4:c.1129C>T MANE Select	NP_003218.2:p.Pro377Ser
NM_001206855.3:c.616C>T	NP_001193784.1:p.Pro206Ser