Canonical Allele Identifier: CA4386770

Gene: TFR2

Linked Data

• dbSNP Id: rs778448570
• ExAC: 7:100230990 C / G
• gnomAD v2: 7-100230990-C-G
• gnomAD v3: 7-100633367-C-G
• gnomAD v4: 7-100633367-C-G
• MyVariant Identifiers: chr7:g.100230990C>G (hg19) ; chr7:g.100633367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633367C>G , CM000669.2:g.100633367C>G	GRCh38
NC_000007.13:g.100230990C>G , CM000669.1:g.100230990C>G	GRCh37
NC_000007.12:g.100068926C>G	NCBI36
NG_007989.1:g.13184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.615-27G>C MANE Select	ENSP00000223051.3:n.615-27G>C
ENST00000223051.7:c.615-27G>C	ENSP00000223051.3:n.615-27G>C
ENST00000431692.5:c.615-27G>C	ENSP00000413905.1:n.615-27G>C
ENST00000462107.1:c.615-27G>C	ENSP00000420525.1:n.615-27G>C
ENST00000465294.5:n.620-27G>C
ENST00000473374.5:n.38G>C
ENST00000473571.1:n.42G>C
ENST00000475011.1:n.144-27G>C
ENST00000476304.5:n.236-27G>C
NM_001206855.1:c.102-27G>C	NP_001193784.1:n.102-27G>C
NM_003227.3:c.615-27G>C	NP_003218.2:n.615-27G>C
XM_005250553.3:c.615-27G>C	XP_005250610.1:n.615-27G>C
XM_005250554.3:c.615-27G>C	XP_005250611.1:n.615-27G>C
NM_001206855.2:c.102-27G>C	NP_001193784.1:n.102-27G>C
XM_005250553.4:c.615-27G>C	XP_005250610.1:n.615-27G>C
XM_017012573.1:c.615-27G>C	XP_016868062.1:n.615-27G>C
NM_003227.4:c.615-27G>C MANE Select	NP_003218.2:n.615-27G>C
NM_001206855.3:c.102-27G>C	NP_001193784.1:n.102-27G>C