Canonical Allele Identifier: CA4386763

Gene: TFR2

Linked Data

• dbSNP Id: rs755022057
• ExAC: 7:100230937 A / C
• gnomAD v2: 7-100230937-A-C
• gnomAD v4: 7-100633314-A-C
• MyVariant Identifiers: chr7:g.100230937A>C (hg19) ; chr7:g.100633314A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633314A>C , CM000669.2:g.100633314A>C	GRCh38
NC_000007.13:g.100230937A>C , CM000669.1:g.100230937A>C	GRCh37
NC_000007.12:g.100068873A>C	NCBI36
NG_007989.1:g.13237T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.641T>G MANE Select	ENSP00000223051.3:p.Val214Gly
ENST00000223051.7:c.641T>G	ENSP00000223051.3:p.Val214Gly
ENST00000431692.5:c.641T>G	ENSP00000413905.1:p.Val214Gly
ENST00000462107.1:c.641T>G	ENSP00000420525.1:p.Val214Gly
ENST00000465294.5:n.646T>G
ENST00000473374.5:n.91T>G
ENST00000473571.1:n.95T>G
ENST00000475011.1:n.170T>G
ENST00000476304.5:n.262T>G
NM_001206855.1:c.128T>G	NP_001193784.1:p.Val43Gly
NM_003227.3:c.641T>G	NP_003218.2:p.Val214Gly
XM_005250553.3:c.641T>G	XP_005250610.1:p.Val214Gly
XM_005250554.3:c.641T>G	XP_005250611.1:p.Val214Gly
NM_001206855.2:c.128T>G	NP_001193784.1:p.Val43Gly
XM_005250553.4:c.641T>G	XP_005250610.1:p.Val214Gly
XM_017012573.1:c.641T>G	XP_016868062.1:p.Val214Gly
NM_003227.4:c.641T>G MANE Select	NP_003218.2:p.Val214Gly
NM_001206855.3:c.128T>G	NP_001193784.1:p.Val43Gly