Canonical Allele Identifier: CA163283004

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1639610
• ClinVar RCV Id: RCV002129172
• dbSNP Id: rs1043904278
• gnomAD v2: 7-100231134-G-A
• gnomAD v4: 7-100633511-G-A
• MyVariant Identifiers: chr7:g.100231134G>A (hg19) ; chr7:g.100633511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633511G>A , CM000669.2:g.100633511G>A	GRCh38
NC_000007.13:g.100231134G>A , CM000669.1:g.100231134G>A	GRCh37
NC_000007.12:g.100069070G>A	NCBI36
NG_007989.1:g.13040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.519C>T MANE Select	ENSP00000223051.3:p.Ala173=
ENST00000223051.7:c.519C>T	ENSP00000223051.3:p.Ala173=
ENST00000431692.5:c.519C>T	ENSP00000413905.1:p.Ala173=
ENST00000462107.1:c.519C>T	ENSP00000420525.1:p.Ala173=
ENST00000465294.5:n.524C>T
ENST00000475011.1:n.48C>T
ENST00000476304.5:n.140C>T
NM_001206855.1:c.6C>T	NP_001193784.1:p.Ala2=
NM_003227.3:c.519C>T	NP_003218.2:p.Ala173=
XM_005250553.3:c.519C>T	XP_005250610.1:p.Ala173=
XM_005250554.3:c.519C>T	XP_005250611.1:p.Ala173=
NM_001206855.2:c.6C>T	NP_001193784.1:p.Ala2=
XM_005250553.4:c.519C>T	XP_005250610.1:p.Ala173=
XM_017012573.1:c.519C>T	XP_016868062.1:p.Ala173=
NM_003227.4:c.519C>T MANE Select	NP_003218.2:p.Ala173=
NM_001206855.3:c.6C>T	NP_001193784.1:p.Ala2=