Canonical Allele Identifier: CA368521529

Gene: TFR2

Linked Data

• gnomAD v4: 7-100621033-G-T
• MyVariant Identifiers: chr7:g.100218656G>T (hg19) ; chr7:g.100621033G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621033G>T , CM000669.2:g.100621033G>T	GRCh38
NC_000007.13:g.100218656G>T , CM000669.1:g.100218656G>T	GRCh37
NC_000007.12:g.100056592G>T	NCBI36
NG_007989.1:g.25518C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2230C>A MANE Select	ENSP00000223051.3:p.Leu744Met
ENST00000223051.7:c.2230C>A	ENSP00000223051.3:p.Leu744Met
ENST00000431692.5:c.*905C>A	ENSP00000413905.1:n.*905C>A
ENST00000462090.5:n.1266C>A
ENST00000462107.1:c.2230C>A	ENSP00000420525.1:p.Leu744Met
ENST00000465294.5:n.2150C>A
ENST00000476304.5:n.1851C>A
ENST00000490084.5:c.1583C>A
NM_001206855.1:c.1717C>A	NP_001193784.1:p.Leu573Met
NM_003227.3:c.2230C>A	NP_003218.2:p.Leu744Met
XM_005250553.3:c.2230C>A	XP_005250610.1:p.Leu744Met
NM_001206855.2:c.1717C>A	NP_001193784.1:p.Leu573Met
XM_005250553.4:c.2230C>A	XP_005250610.1:p.Leu744Met
XM_017012573.1:c.2230C>A	XP_016868062.1:p.Leu744Met
NM_003227.4:c.2230C>A MANE Select	NP_003218.2:p.Leu744Met
NM_001206855.3:c.1717C>A	NP_001193784.1:p.Leu573Met