Canonical Allele Identifier: CA368521341

Gene: TFR2

Linked Data

• gnomAD v4: 7-100620933-G-A
• MyVariant Identifiers: chr7:g.100218556G>A (hg19) ; chr7:g.100620933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620933G>A , CM000669.2:g.100620933G>A	GRCh38
NC_000007.13:g.100218556G>A , CM000669.1:g.100218556G>A	GRCh37
NC_000007.12:g.100056492G>A	NCBI36
NG_007989.1:g.25618C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2330C>T MANE Select	ENSP00000223051.3:p.Ala777Val
ENST00000223051.7:c.2330C>T	ENSP00000223051.3:p.Ala777Val
ENST00000431692.5:c.*1005C>T	ENSP00000413905.1:n.*1005C>T
ENST00000462090.5:n.1366C>T
ENST00000462107.1:c.2330C>T	ENSP00000420525.1:p.Ala777Val
ENST00000465294.5:n.2250C>T
ENST00000476304.5:n.1951C>T
ENST00000490084.5:c.1683C>T
NM_001206855.1:c.1817C>T	NP_001193784.1:p.Ala606Val
NM_003227.3:c.2330C>T	NP_003218.2:p.Ala777Val
XM_005250553.3:c.2330C>T	XP_005250610.1:p.Ala777Val
NM_001206855.2:c.1817C>T	NP_001193784.1:p.Ala606Val
XM_005250553.4:c.2330C>T	XP_005250610.1:p.Ala777Val
XM_017012573.1:c.2330C>T	XP_016868062.1:p.Ala777Val
NM_003227.4:c.2330C>T MANE Select	NP_003218.2:p.Ala777Val
NM_001206855.3:c.1817C>T	NP_001193784.1:p.Ala606Val