Canonical Allele Identifier: CA456894449

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1094590
• ClinVar RCV Id: RCV001415142
• dbSNP Id: rs1803308839
• gnomAD v4: 7-100627761-G-A
• MyVariant Identifiers: chr7:g.100225384G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627761G>A , CM000669.2:g.100627761G>A	GRCh38
NC_000007.13:g.100225384G>A , CM000669.1:g.100225384G>A	GRCh37
NC_000007.12:g.100063320G>A	NCBI36
NG_007989.1:g.18790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1665C>T MANE Select	ENSP00000223051.3:p.Pro555=
ENST00000223051.7:c.1665C>T	ENSP00000223051.3:p.Pro555=
ENST00000431692.5:c.*340C>T	ENSP00000413905.1:n.*340C>T
ENST00000462090.5:n.616C>T
ENST00000462107.1:c.1665C>T	ENSP00000420525.1:p.Pro555=
ENST00000465294.5:n.1500C>T
ENST00000473374.5:n.738C>T
ENST00000473963.1:n.694C>T
ENST00000476304.5:n.1286C>T
ENST00000490084.5:c.1018C>T
NM_001206855.1:c.1152C>T	NP_001193784.1:p.Pro384=
NM_003227.3:c.1665C>T	NP_003218.2:p.Pro555=
XM_005250553.3:c.1665C>T	XP_005250610.1:p.Pro555=
XM_005250554.3:c.1665C>T	XP_005250611.1:p.Pro555=
XR_927814.1:n.434-3395G>A
NM_001206855.2:c.1152C>T	NP_001193784.1:p.Pro384=
XM_005250553.4:c.1665C>T	XP_005250610.1:p.Pro555=
XM_017012573.1:c.1665C>T	XP_016868062.1:p.Pro555=
NM_003227.4:c.1665C>T MANE Select	NP_003218.2:p.Pro555=
NM_001206855.3:c.1152C>T	NP_001193784.1:p.Pro384=