Canonical Allele Identifier: CA368526477

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100225402C>A (hg19) ; chr7:g.100627779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627779C>A , CM000669.2:g.100627779C>A	GRCh38
NC_000007.13:g.100225402C>A , CM000669.1:g.100225402C>A	GRCh37
NC_000007.12:g.100063338C>A	NCBI36
NG_007989.1:g.18772G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1647G>T MANE Select	ENSP00000223051.3:p.Gln549His
ENST00000223051.7:c.1647G>T	ENSP00000223051.3:p.Gln549His
ENST00000431692.5:c.*322G>T	ENSP00000413905.1:n.*322G>T
ENST00000462090.5:n.598G>T
ENST00000462107.1:c.1647G>T	ENSP00000420525.1:p.Gln549His
ENST00000465294.5:n.1482G>T
ENST00000473374.5:n.720G>T
ENST00000473963.1:n.676G>T
ENST00000476304.5:n.1268G>T
ENST00000490084.5:c.1000G>T
NM_001206855.1:c.1134G>T	NP_001193784.1:p.Gln378His
NM_003227.3:c.1647G>T	NP_003218.2:p.Gln549His
XM_005250553.3:c.1647G>T	XP_005250610.1:p.Gln549His
XM_005250554.3:c.1647G>T	XP_005250611.1:p.Gln549His
XR_927814.1:n.434-3377C>A
NM_001206855.2:c.1134G>T	NP_001193784.1:p.Gln378His
XM_005250553.4:c.1647G>T	XP_005250610.1:p.Gln549His
XM_017012573.1:c.1647G>T	XP_016868062.1:p.Gln549His
NM_003227.4:c.1647G>T MANE Select	NP_003218.2:p.Gln549His
NM_001206855.3:c.1134G>T	NP_001193784.1:p.Gln378His