Canonical Allele Identifier: CA4386282

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2715001
• ClinVar RCV Id: RCV003590607
• dbSNP Id: rs775498234
• ExAC: 7:100225180 G / C
• gnomAD v2: 7-100225180-G-C
• gnomAD v3: 7-100627557-G-C
• gnomAD v4: 7-100627557-G-C
• MyVariant Identifiers: chr7:g.100225180G>C (hg19) ; chr7:g.100627557G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627557G>C , CM000669.2:g.100627557G>C	GRCh38
NC_000007.13:g.100225180G>C , CM000669.1:g.100225180G>C	GRCh37
NC_000007.12:g.100063116G>C	NCBI36
NG_007989.1:g.18994C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1767+20C>G MANE Select	ENSP00000223051.3:n.1767+20C>G
ENST00000223051.7:c.1767+20C>G	ENSP00000223051.3:n.1767+20C>G
ENST00000431692.5:c.*442+20C>G	ENSP00000413905.1:n.*442+20C>G
ENST00000461176.1:n.48C>G
ENST00000462090.5:n.738C>G
ENST00000462107.1:c.1767+20C>G	ENSP00000420525.1:n.1767+20C>G
ENST00000465294.5:n.1622C>G
ENST00000473374.5:n.840+20C>G
ENST00000476304.5:n.1388+20C>G
ENST00000490084.5:c.1120+20C>G
NM_001206855.1:c.1254+20C>G	NP_001193784.1:n.1254+20C>G
NM_003227.3:c.1767+20C>G	NP_003218.2:n.1767+20C>G
XM_005250553.3:c.1767+20C>G	XP_005250610.1:n.1767+20C>G
XM_005250554.3:c.1767+20C>G	XP_005250611.1:n.1767+20C>G
XR_927814.1:n.434-3599G>C
NM_001206855.2:c.1254+20C>G	NP_001193784.1:n.1254+20C>G
XM_005250553.4:c.1767+20C>G	XP_005250610.1:n.1767+20C>G
XM_017012573.1:c.1767+20C>G	XP_016868062.1:n.1767+20C>G
NM_003227.4:c.1767+20C>G MANE Select	NP_003218.2:n.1767+20C>G
NM_001206855.3:c.1254+20C>G	NP_001193784.1:n.1254+20C>G