Canonical Allele Identifier: CA830497689

Gene: TFR2

Linked Data

• dbSNP Id: rs1050719011
• gnomAD v4: 7-100620609-T-G
• MyVariant Identifiers: chr7:g.100218232T>G (hg19) ; chr7:g.100620609T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620609T>G , CM000669.2:g.100620609T>G	GRCh38
NC_000007.13:g.100218232T>G , CM000669.1:g.100218232T>G	GRCh37
NC_000007.12:g.100056168T>G	NCBI36
NG_007989.1:g.25942A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*248A>C MANE Select	ENSP00000223051.3:n.*248A>C
ENST00000223051.7:c.*248A>C	ENSP00000223051.3:n.*248A>C
ENST00000431692.5:c.*1329A>C	ENSP00000413905.1:n.*1329A>C
ENST00000462090.5:n.1690A>C
ENST00000462107.1:c.*248A>C	ENSP00000420525.1:n.*248A>C
ENST00000465294.5:n.2574A>C
ENST00000476304.5:n.2275A>C
ENST00000490084.5:c.2007A>C
NM_001206855.1:c.*248A>C	NP_001193784.1:n.*248A>C
NM_003227.3:c.*248A>C	NP_003218.2:n.*248A>C
XM_005250553.3:c.*248A>C	XP_005250610.1:n.*248A>C
NM_001206855.2:c.*248A>C	NP_001193784.1:n.*248A>C
XM_005250553.4:c.*248A>C	XP_005250610.1:n.*248A>C
XM_017012573.1:c.*248A>C	XP_016868062.1:n.*248A>C
NM_003227.4:c.*248A>C MANE Select	NP_003218.2:n.*248A>C
NM_001206855.3:c.*248A>C	NP_001193784.1:n.*248A>C