Canonical Allele Identifier: CA368522974

Gene: TFR2

Linked Data

• dbSNP Id: rs2131311145
• gnomAD v4: 7-100626869-G-A
• MyVariant Identifiers: chr7:g.100224492G>A (hg19) ; chr7:g.100626869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626869G>A , CM000669.2:g.100626869G>A	GRCh38
NC_000007.13:g.100224492G>A , CM000669.1:g.100224492G>A	GRCh37
NC_000007.12:g.100062428G>A	NCBI36
NG_007989.1:g.19682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2030C>T MANE Select	ENSP00000223051.3:p.Ala677Val
ENST00000223051.7:c.2030C>T	ENSP00000223051.3:p.Ala677Val
ENST00000431692.5:c.*705C>T	ENSP00000413905.1:n.*705C>T
ENST00000461176.1:n.376C>T
ENST00000462090.5:n.1066C>T
ENST00000462107.1:c.2030C>T	ENSP00000420525.1:p.Ala677Val
ENST00000465294.5:n.1950C>T
ENST00000476304.5:n.1651C>T
ENST00000490084.5:c.1383C>T
NM_001206855.1:c.1517C>T	NP_001193784.1:p.Ala506Val
NM_003227.3:c.2030C>T	NP_003218.2:p.Ala677Val
XM_005250553.3:c.2030C>T	XP_005250610.1:p.Ala677Val
XM_005250554.3:c.2030C>T	XP_005250611.1:p.Ala677Val
XR_927814.1:n.434-4287G>A
NM_001206855.2:c.1517C>T	NP_001193784.1:p.Ala506Val
XM_005250553.4:c.2030C>T	XP_005250610.1:p.Ala677Val
XM_017012573.1:c.2030C>T	XP_016868062.1:p.Ala677Val
NM_003227.4:c.2030C>T MANE Select	NP_003218.2:p.Ala677Val
NM_001206855.3:c.1517C>T	NP_001193784.1:p.Ala506Val