Canonical Allele Identifier: CA368533719

Gene: TFR2

Linked Data

• dbSNP Id: rs1211750578
• gnomAD v3: 7-100633035-A-G
• gnomAD v4: 7-100633035-A-G
• MyVariant Identifiers: chr7:g.100230658A>G (hg19) ; chr7:g.100633035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633035A>G , CM000669.2:g.100633035A>G	GRCh38
NC_000007.13:g.100230658A>G , CM000669.1:g.100230658A>G	GRCh37
NC_000007.12:g.100068594A>G	NCBI36
NG_007989.1:g.13516T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.815T>C MANE Select	ENSP00000223051.3:p.Leu272Pro
ENST00000223051.7:c.815T>C	ENSP00000223051.3:p.Leu272Pro
ENST00000431692.5:c.815T>C	ENSP00000413905.1:p.Leu272Pro
ENST00000462090.5:n.56T>C
ENST00000462107.1:c.815T>C	ENSP00000420525.1:p.Leu272Pro
ENST00000465294.5:n.820T>C
ENST00000473374.5:n.265T>C
ENST00000473571.1:n.269T>C
ENST00000475011.1:n.344T>C
ENST00000476304.5:n.436T>C
ENST00000490084.5:c.70T>C
NM_001206855.1:c.302T>C	NP_001193784.1:p.Leu101Pro
NM_003227.3:c.815T>C	NP_003218.2:p.Leu272Pro
XM_005250553.3:c.815T>C	XP_005250610.1:p.Leu272Pro
XM_005250554.3:c.815T>C	XP_005250611.1:p.Leu272Pro
NM_001206855.2:c.302T>C	NP_001193784.1:p.Leu101Pro
XM_005250553.4:c.815T>C	XP_005250610.1:p.Leu272Pro
XM_017012573.1:c.815T>C	XP_016868062.1:p.Leu272Pro
NM_003227.4:c.815T>C MANE Select	NP_003218.2:p.Leu272Pro
NM_001206855.3:c.302T>C	NP_001193784.1:p.Leu101Pro