Canonical Allele Identifier: CA456894495

Gene: TFR2

Linked Data

• dbSNP Id: rs1191335628
• gnomAD v4: 7-100627625-G-A
• MyVariant Identifiers: chr7:g.100225248G>A (hg19) ; chr7:g.100627625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627625G>A , CM000669.2:g.100627625G>A	GRCh38
NC_000007.13:g.100225248G>A , CM000669.1:g.100225248G>A	GRCh37
NC_000007.12:g.100063184G>A	NCBI36
NG_007989.1:g.18926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1719C>T MANE Select	ENSP00000223051.3:p.Ser573=
ENST00000223051.7:c.1719C>T	ENSP00000223051.3:p.Ser573=
ENST00000431692.5:c.*394C>T	ENSP00000413905.1:n.*394C>T
ENST00000462090.5:n.670C>T
ENST00000462107.1:c.1719C>T	ENSP00000420525.1:p.Ser573=
ENST00000465294.5:n.1554C>T
ENST00000473374.5:n.792C>T
ENST00000473963.1:n.748C>T
ENST00000476304.5:n.1340C>T
ENST00000490084.5:c.1072C>T
NM_001206855.1:c.1206C>T	NP_001193784.1:p.Ser402=
NM_003227.3:c.1719C>T	NP_003218.2:p.Ser573=
XM_005250553.3:c.1719C>T	XP_005250610.1:p.Ser573=
XM_005250554.3:c.1719C>T	XP_005250611.1:p.Ser573=
XR_927814.1:n.434-3531G>A
NM_001206855.2:c.1206C>T	NP_001193784.1:p.Ser402=
XM_005250553.4:c.1719C>T	XP_005250610.1:p.Ser573=
XM_017012573.1:c.1719C>T	XP_016868062.1:p.Ser573=
NM_003227.4:c.1719C>T MANE Select	NP_003218.2:p.Ser573=
NM_001206855.3:c.1206C>T	NP_001193784.1:p.Ser402=