Canonical Allele Identifier: CA163273071

Gene: TFR2

Linked Data

• dbSNP Id: rs986716839
• gnomAD v2: 7-100218203-A-C
• gnomAD v3: 7-100620580-A-C
• gnomAD v4: 7-100620580-A-C
• MyVariant Identifiers: chr7:g.100218203A>C (hg19) ; chr7:g.100620580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620580A>C , CM000669.2:g.100620580A>C	GRCh38
NC_000007.13:g.100218203A>C , CM000669.1:g.100218203A>C	GRCh37
NC_000007.12:g.100056139A>C	NCBI36
NG_007989.1:g.25971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.*277T>G MANE Select	ENSP00000223051.3:n.*277T>G
ENST00000223051.7:c.*277T>G	ENSP00000223051.3:n.*277T>G
ENST00000431692.5:c.*1358T>G	ENSP00000413905.1:n.*1358T>G
ENST00000462090.5:n.1719T>G
ENST00000462107.1:c.*277T>G	ENSP00000420525.1:n.*277T>G
ENST00000465294.5:n.2603T>G
ENST00000476304.5:n.2304T>G
ENST00000490084.5:c.2036T>G
NM_001206855.1:c.*277T>G	NP_001193784.1:n.*277T>G
NM_003227.3:c.*277T>G	NP_003218.2:n.*277T>G
XM_005250553.3:c.*277T>G	XP_005250610.1:n.*277T>G
NM_001206855.2:c.*277T>G	NP_001193784.1:n.*277T>G
XM_005250553.4:c.*277T>G	XP_005250610.1:n.*277T>G
XM_017012573.1:c.*277T>G	XP_016868062.1:n.*277T>G
NM_003227.4:c.*277T>G MANE Select	NP_003218.2:n.*277T>G
NM_001206855.3:c.*277T>G	NP_001193784.1:n.*277T>G