Canonical Allele Identifier: CA4386290

Gene: TFR2

Linked Data

• ClinVar Variation Id: 696030
• ClinVar RCV Id: RCV000862131 ; RCV001273131
• dbSNP Id: rs143251494
• ExAC: 7:100225205 T / A
• gnomAD v2: 7-100225205-T-A
• gnomAD v3: 7-100627582-T-A
• gnomAD v4: 7-100627582-T-A
• MyVariant Identifiers: chr7:g.100225205T>A (hg19) ; chr7:g.100627582T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627582T>A , CM000669.2:g.100627582T>A	GRCh38
NC_000007.13:g.100225205T>A , CM000669.1:g.100225205T>A	GRCh37
NC_000007.12:g.100063141T>A	NCBI36
NG_007989.1:g.18969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1762A>T MANE Select	ENSP00000223051.3:p.Met588Leu
ENST00000223051.7:c.1762A>T	ENSP00000223051.3:p.Met588Leu
ENST00000431692.5:c.*437A>T	ENSP00000413905.1:n.*437A>T
ENST00000461176.1:n.23A>T
ENST00000462090.5:n.713A>T
ENST00000462107.1:c.1762A>T	ENSP00000420525.1:p.Met588Leu
ENST00000465294.5:n.1597A>T
ENST00000473374.5:n.835A>T
ENST00000476304.5:n.1383A>T
ENST00000490084.5:c.1115A>T
NM_001206855.1:c.1249A>T	NP_001193784.1:p.Met417Leu
NM_003227.3:c.1762A>T	NP_003218.2:p.Met588Leu
XM_005250553.3:c.1762A>T	XP_005250610.1:p.Met588Leu
XM_005250554.3:c.1762A>T	XP_005250611.1:p.Met588Leu
XR_927814.1:n.434-3574T>A
NM_001206855.2:c.1249A>T	NP_001193784.1:p.Met417Leu
XM_005250553.4:c.1762A>T	XP_005250610.1:p.Met588Leu
XM_017012573.1:c.1762A>T	XP_016868062.1:p.Met588Leu
NM_003227.4:c.1762A>T MANE Select	NP_003218.2:p.Met588Leu
NM_001206855.3:c.1249A>T	NP_001193784.1:p.Met417Leu