Canonical Allele Identifier: CA4386720

Gene: TFR2

Linked Data

• ClinVar Variation Id: 700923
• ClinVar RCV Id: RCV000869286
• dbSNP Id: rs752480106
• ExAC: 7:100230752 G / A
• gnomAD v2: 7-100230752-G-A
• gnomAD v3: 7-100633129-G-A
• gnomAD v4: 7-100633129-G-A
• MyVariant Identifiers: chr7:g.100230752G>A (hg19) ; chr7:g.100633129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633129G>A , CM000669.2:g.100633129G>A	GRCh38
NC_000007.13:g.100230752G>A , CM000669.1:g.100230752G>A	GRCh37
NC_000007.12:g.100068688G>A	NCBI36
NG_007989.1:g.13422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.727-6C>T MANE Select	ENSP00000223051.3:n.727-6C>T
ENST00000223051.7:c.727-6C>T	ENSP00000223051.3:n.727-6C>T
ENST00000431692.5:c.727-6C>T	ENSP00000413905.1:n.727-6C>T
ENST00000462107.1:c.727-6C>T	ENSP00000420525.1:n.727-6C>T
ENST00000465294.5:n.732-6C>T
ENST00000473374.5:n.177-6C>T
ENST00000473571.1:n.181-6C>T
ENST00000475011.1:n.256-6C>T
ENST00000476304.5:n.348-6C>T
NM_001206855.1:c.214-6C>T	NP_001193784.1:n.214-6C>T
NM_003227.3:c.727-6C>T	NP_003218.2:n.727-6C>T
XM_005250553.3:c.727-6C>T	XP_005250610.1:n.727-6C>T
XM_005250554.3:c.727-6C>T	XP_005250611.1:n.727-6C>T
NM_001206855.2:c.214-6C>T	NP_001193784.1:n.214-6C>T
XM_005250553.4:c.727-6C>T	XP_005250610.1:n.727-6C>T
XM_017012573.1:c.727-6C>T	XP_016868062.1:n.727-6C>T
NM_003227.4:c.727-6C>T MANE Select	NP_003218.2:n.727-6C>T
NM_001206855.3:c.214-6C>T	NP_001193784.1:n.214-6C>T