Canonical Allele Identifier: CA368523015

Gene: TFR2

Linked Data

• gnomAD v4: 7-100626881-C-A
• MyVariant Identifiers: chr7:g.100224504C>A (hg19) ; chr7:g.100626881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626881C>A , CM000669.2:g.100626881C>A	GRCh38
NC_000007.13:g.100224504C>A , CM000669.1:g.100224504C>A	GRCh37
NC_000007.12:g.100062440C>A	NCBI36
NG_007989.1:g.19670G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2018G>T MANE Select	ENSP00000223051.3:p.Trp673Leu
ENST00000223051.7:c.2018G>T	ENSP00000223051.3:p.Trp673Leu
ENST00000431692.5:c.*693G>T	ENSP00000413905.1:n.*693G>T
ENST00000461176.1:n.364G>T
ENST00000462090.5:n.1054G>T
ENST00000462107.1:c.2018G>T	ENSP00000420525.1:p.Trp673Leu
ENST00000465294.5:n.1938G>T
ENST00000476304.5:n.1639G>T
ENST00000490084.5:c.1371G>T
NM_001206855.1:c.1505G>T	NP_001193784.1:p.Trp502Leu
NM_003227.3:c.2018G>T	NP_003218.2:p.Trp673Leu
XM_005250553.3:c.2018G>T	XP_005250610.1:p.Trp673Leu
XM_005250554.3:c.2018G>T	XP_005250611.1:p.Trp673Leu
XR_927814.1:n.434-4275C>A
NM_001206855.2:c.1505G>T	NP_001193784.1:p.Trp502Leu
XM_005250553.4:c.2018G>T	XP_005250610.1:p.Trp673Leu
XM_017012573.1:c.2018G>T	XP_016868062.1:p.Trp673Leu
NM_003227.4:c.2018G>T MANE Select	NP_003218.2:p.Trp673Leu
NM_001206855.3:c.1505G>T	NP_001193784.1:p.Trp502Leu