Canonical Allele Identifier: CA368524437

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100224937C>A (hg19) ; chr7:g.100627314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627314C>A , CM000669.2:g.100627314C>A	GRCh38
NC_000007.13:g.100224937C>A , CM000669.1:g.100224937C>A	GRCh37
NC_000007.12:g.100062873C>A	NCBI36
NG_007989.1:g.19237G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1945G>T MANE Select	ENSP00000223051.3:p.Val649Phe
ENST00000223051.7:c.1945G>T	ENSP00000223051.3:p.Val649Phe
ENST00000431692.5:c.*620G>T	ENSP00000413905.1:n.*620G>T
ENST00000461176.1:n.291G>T
ENST00000462090.5:n.981G>T
ENST00000462107.1:c.1945G>T	ENSP00000420525.1:p.Val649Phe
ENST00000465294.5:n.1865G>T
ENST00000476304.5:n.1566G>T
ENST00000490084.5:c.1298G>T
NM_001206855.1:c.1432G>T	NP_001193784.1:p.Val478Phe
NM_003227.3:c.1945G>T	NP_003218.2:p.Val649Phe
XM_005250553.3:c.1945G>T	XP_005250610.1:p.Val649Phe
XM_005250554.3:c.1945G>T	XP_005250611.1:p.Val649Phe
XR_927814.1:n.434-3842C>A
NM_001206855.2:c.1432G>T	NP_001193784.1:p.Val478Phe
XM_005250553.4:c.1945G>T	XP_005250610.1:p.Val649Phe
XM_017012573.1:c.1945G>T	XP_016868062.1:p.Val649Phe
NM_003227.4:c.1945G>T MANE Select	NP_003218.2:p.Val649Phe
NM_001206855.3:c.1432G>T	NP_001193784.1:p.Val478Phe