Canonical Allele Identifier: CA368525775

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100225211A>C (hg19) ; chr7:g.100627588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627588A>C , CM000669.2:g.100627588A>C	GRCh38
NC_000007.13:g.100225211A>C , CM000669.1:g.100225211A>C	GRCh37
NC_000007.12:g.100063147A>C	NCBI36
NG_007989.1:g.18963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1756T>G MANE Select	ENSP00000223051.3:p.Ser586Ala
ENST00000223051.7:c.1756T>G	ENSP00000223051.3:p.Ser586Ala
ENST00000431692.5:c.*431T>G	ENSP00000413905.1:n.*431T>G
ENST00000461176.1:n.17T>G
ENST00000462090.5:n.707T>G
ENST00000462107.1:c.1756T>G	ENSP00000420525.1:p.Ser586Ala
ENST00000465294.5:n.1591T>G
ENST00000473374.5:n.829T>G
ENST00000476304.5:n.1377T>G
ENST00000490084.5:c.1109T>G
NM_001206855.1:c.1243T>G	NP_001193784.1:p.Ser415Ala
NM_003227.3:c.1756T>G	NP_003218.2:p.Ser586Ala
XM_005250553.3:c.1756T>G	XP_005250610.1:p.Ser586Ala
XM_005250554.3:c.1756T>G	XP_005250611.1:p.Ser586Ala
XR_927814.1:n.434-3568A>C
NM_001206855.2:c.1243T>G	NP_001193784.1:p.Ser415Ala
XM_005250553.4:c.1756T>G	XP_005250610.1:p.Ser586Ala
XM_017012573.1:c.1756T>G	XP_016868062.1:p.Ser586Ala
NM_003227.4:c.1756T>G MANE Select	NP_003218.2:p.Ser586Ala
NM_001206855.3:c.1243T>G	NP_001193784.1:p.Ser415Ala