Canonical Allele Identifier: CA368526466

Gene: TFR2

Linked Data

• dbSNP Id: rs1803309500
• gnomAD v4: 7-100627777-A-G
• MyVariant Identifiers: chr7:g.100225400A>G (hg19) ; chr7:g.100627777A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627777A>G , CM000669.2:g.100627777A>G	GRCh38
NC_000007.13:g.100225400A>G , CM000669.1:g.100225400A>G	GRCh37
NC_000007.12:g.100063336A>G	NCBI36
NG_007989.1:g.18774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1649T>C MANE Select	ENSP00000223051.3:p.Val550Ala
ENST00000223051.7:c.1649T>C	ENSP00000223051.3:p.Val550Ala
ENST00000431692.5:c.*324T>C	ENSP00000413905.1:n.*324T>C
ENST00000462090.5:n.600T>C
ENST00000462107.1:c.1649T>C	ENSP00000420525.1:p.Val550Ala
ENST00000465294.5:n.1484T>C
ENST00000473374.5:n.722T>C
ENST00000473963.1:n.678T>C
ENST00000476304.5:n.1270T>C
ENST00000490084.5:c.1002T>C
NM_001206855.1:c.1136T>C	NP_001193784.1:p.Val379Ala
NM_003227.3:c.1649T>C	NP_003218.2:p.Val550Ala
XM_005250553.3:c.1649T>C	XP_005250610.1:p.Val550Ala
XM_005250554.3:c.1649T>C	XP_005250611.1:p.Val550Ala
XR_927814.1:n.434-3379A>G
NM_001206855.2:c.1136T>C	NP_001193784.1:p.Val379Ala
XM_005250553.4:c.1649T>C	XP_005250610.1:p.Val550Ala
XM_017012573.1:c.1649T>C	XP_016868062.1:p.Val550Ala
NM_003227.4:c.1649T>C MANE Select	NP_003218.2:p.Val550Ala
NM_001206855.3:c.1136T>C	NP_001193784.1:p.Val379Ala