Canonical Allele Identifier: CA368534087

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100230724T>C (hg19) ; chr7:g.100633101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633101T>C , CM000669.2:g.100633101T>C	GRCh38
NC_000007.13:g.100230724T>C , CM000669.1:g.100230724T>C	GRCh37
NC_000007.12:g.100068660T>C	NCBI36
NG_007989.1:g.13450A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.749A>G MANE Select	ENSP00000223051.3:p.Tyr250Cys
ENST00000223051.7:c.749A>G	ENSP00000223051.3:p.Tyr250Cys
ENST00000431692.5:c.749A>G	ENSP00000413905.1:p.Tyr250Cys
ENST00000462107.1:c.749A>G	ENSP00000420525.1:p.Tyr250Cys
ENST00000465294.5:n.754A>G
ENST00000473374.5:n.199A>G
ENST00000473571.1:n.203A>G
ENST00000475011.1:n.278A>G
ENST00000476304.5:n.370A>G
ENST00000490084.5:c.4A>G
NM_001206855.1:c.236A>G	NP_001193784.1:p.Tyr79Cys
NM_003227.3:c.749A>G	NP_003218.2:p.Tyr250Cys
XM_005250553.3:c.749A>G	XP_005250610.1:p.Tyr250Cys
XM_005250554.3:c.749A>G	XP_005250611.1:p.Tyr250Cys
NM_001206855.2:c.236A>G	NP_001193784.1:p.Tyr79Cys
XM_005250553.4:c.749A>G	XP_005250610.1:p.Tyr250Cys
XM_017012573.1:c.749A>G	XP_016868062.1:p.Tyr250Cys
NM_003227.4:c.749A>G MANE Select	NP_003218.2:p.Tyr250Cys
NM_001206855.3:c.236A>G	NP_001193784.1:p.Tyr79Cys