Canonical Allele Identifier: CA368534972

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100231139T>C (hg19) ; chr7:g.100633516T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633516T>C , CM000669.2:g.100633516T>C	GRCh38
NC_000007.13:g.100231139T>C , CM000669.1:g.100231139T>C	GRCh37
NC_000007.12:g.100069075T>C	NCBI36
NG_007989.1:g.13035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.514A>G MANE Select	ENSP00000223051.3:p.Met172Val
ENST00000223051.7:c.514A>G	ENSP00000223051.3:p.Met172Val
ENST00000431692.5:c.514A>G	ENSP00000413905.1:p.Met172Val
ENST00000462107.1:c.514A>G	ENSP00000420525.1:p.Met172Val
ENST00000465294.5:n.519A>G
ENST00000475011.1:n.43A>G
ENST00000476304.5:n.135A>G
NM_001206855.1:c.1A>G	NP_001193784.1:p.Met1Val
NM_003227.3:c.514A>G	NP_003218.2:p.Met172Val
XM_005250553.3:c.514A>G	XP_005250610.1:p.Met172Val
XM_005250554.3:c.514A>G	XP_005250611.1:p.Met172Val
NM_001206855.2:c.1A>G	NP_001193784.1:p.Met1Val
XM_005250553.4:c.514A>G	XP_005250610.1:p.Met172Val
XM_017012573.1:c.514A>G	XP_016868062.1:p.Met172Val
NM_003227.4:c.514A>G MANE Select	NP_003218.2:p.Met172Val
NM_001206855.3:c.1A>G	NP_001193784.1:p.Met1Val