Canonical Allele Identifier: CA8134814

Gene: TERF2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69368402C>T , CM000678.2:g.69368402C>T	GRCh38
NC_000016.9:g.69402305C>T , CM000678.1:g.69402305C>T	GRCh37
NC_000016.8:g.67959806C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_005652.5:c.921G>A MANE Select	NP_005643.2:p.Val307=
ENST00000254942.8:c.921G>A MANE Select	ENSP00000254942.3:p.Val307=
NM_005652.4:c.921G>A	NP_005643.2:p.Val307=
ENST00000254942.7:c.921G>A	ENSP00000254942.3:p.Val307=
ENST00000564982.6:c.428G>A	ENSP00000462523.1:n.428G>A
ENST00000566257.5:c.441G>A	ENSP00000457094.1:p.Val147=
ENST00000566750.5:c.558G>A	ENSP00000456022.1:p.Val186=
ENST00000569542.6:c.152G>A
ENST00000569584.6:c.242G>A
XM_005256121.2:c.930G>A	XP_005256178.1:p.Val310=
XM_005256121.3:c.930G>A	XP_005256178.1:p.Val310=
XM_005256122.2:c.930G>A	XP_005256179.1:p.Val310=
XM_005256122.3:c.930G>A	XP_005256179.1:p.Val310=
XM_005256123.2:c.921G>A	XP_005256180.1:p.Val307=
XM_005256123.3:c.921G>A	XP_005256180.1:p.Val307=
XM_005256124.2:c.687G>A	XP_005256181.1:p.Val229=
XM_005256124.4:c.687G>A	XP_005256181.1:p.Val229=
XM_011523308.1:c.930G>A	XP_011521610.1:p.Val310=
XR_001751974.1:n.963G>A