Canonical Allele Identifier: CA456749300

Gene: TFR2

Linked Data

• ClinVar Variation Id: 911961
• ClinVar RCV Id: RCV001164795
• dbSNP Id: rs1803271304
• gnomAD v4: 7-100626856-G-A
• MyVariant Identifiers: chr7:g.100224479G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626856G>A , CM000669.2:g.100626856G>A	GRCh38
NC_000007.13:g.100224479G>A , CM000669.1:g.100224479G>A	GRCh37
NC_000007.12:g.100062415G>A	NCBI36
NG_007989.1:g.19695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2043C>T MANE Select	ENSP00000223051.3:p.Tyr681=
ENST00000223051.7:c.2043C>T	ENSP00000223051.3:p.Tyr681=
ENST00000431692.5:c.*718C>T	ENSP00000413905.1:n.*718C>T
ENST00000461176.1:n.389C>T
ENST00000462090.5:n.1079C>T
ENST00000462107.1:c.2043C>T	ENSP00000420525.1:p.Tyr681=
ENST00000465294.5:n.1963C>T
ENST00000476304.5:n.1664C>T
ENST00000490084.5:c.1396C>T
NM_001206855.1:c.1530C>T	NP_001193784.1:p.Tyr510=
NM_003227.3:c.2043C>T	NP_003218.2:p.Tyr681=
XM_005250553.3:c.2043C>T	XP_005250610.1:p.Tyr681=
XM_005250554.3:c.2043C>T	XP_005250611.1:p.Tyr681=
XR_927814.1:n.434-4300G>A
NM_001206855.2:c.1530C>T	NP_001193784.1:p.Tyr510=
XM_005250553.4:c.2043C>T	XP_005250610.1:p.Tyr681=
XM_017012573.1:c.2043C>T	XP_016868062.1:p.Tyr681=
NM_003227.4:c.2043C>T MANE Select	NP_003218.2:p.Tyr681=
NM_001206855.3:c.1530C>T	NP_001193784.1:p.Tyr510=