Canonical Allele Identifier: CA2832592554

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100628228A= , CM000669.2:g.100628228A=	GRCh38
NC_000007.13:g.100225851A= , CM000669.1:g.100225851A=	GRCh37
NC_000007.12:g.100063787A=	NCBI36
NG_007989.1:g.18323T=

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.1469T= MANE Select	NP_003218.2:p.Leu490=
ENST00000223051.8:c.1469T= MANE Select	ENSP00000223051.3:p.Leu490=
NM_001206855.1:c.956T=	NP_001193784.1:p.Leu319=
NM_001206855.2:c.956T=	NP_001193784.1:p.Leu319=
NM_001206855.3:c.956T=	NP_001193784.1:p.Leu319=
NM_003227.3:c.1469T=	NP_003218.2:p.Leu490=
ENST00000223051.7:c.1469T=	ENSP00000223051.3:p.Leu490=
ENST00000431692.5:c.*144T=	ENSP00000413905.1:n.*144T=
ENST00000462090.5:n.333T=
ENST00000462107.1:c.1469T=	ENSP00000420525.1:p.Leu490=
ENST00000465294.5:n.1217T=
ENST00000473374.5:n.542T=
ENST00000473963.1:n.498T=
ENST00000476304.5:n.1090T=
ENST00000490084.5:c.822T=
XM_005250553.3:c.1469T=	XP_005250610.1:p.Leu490=
XM_005250553.4:c.1469T=	XP_005250610.1:p.Leu490=
XM_005250554.3:c.1469T=	XP_005250611.1:p.Leu490=
XM_017012573.1:c.1469T=	XP_016868062.1:p.Leu490=
XR_927814.1:n.434-2928A=