Canonical Allele Identifier: CA6763805
Gene: MTERF2 HGNC NCBI
TMEM263 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.106977952_106977955del , CM000674.2:g.106977952_106977955del GRCh38
NC_000012.11:g.107371730_107371733del , CM000674.1:g.107371730_107371733del GRCh37
NC_000012.10:g.105895860_105895863del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000713581.1:c.763_766del (MTERF2) ENSP00000518873.1:p.Leu255PhefsTer26
ENST00000240050.9:c.763_766del (MTERF2) MANE Select ENSP00000240050.4:p.Leu255PhefsTer26
ENST00000240050.8:c.763_766del (MTERF2) ENSP00000240050.4:p.Leu255PhefsTer26
ENST00000392830.6:c.763_766del (MTERF2) ENSP00000376575.2:p.Leu255PhefsTer26
ENST00000548806.1:n.216-398_216-395del (TMEM263)
ENST00000551237.1:n.388-398_388-395del (TMEM263)
ENST00000552029.1:c.763_766del (MTERF2) ENSP00000447651.1:p.Leu255PhefsTer26
NM_001033050.2:c.763_766del (MTERF2) NP_001028222.1:p.Leu255PhefsTer26
NM_025198.4:c.763_766del (MTERF2) NP_079474.2:p.Leu255PhefsTer26
XM_006719613.2:c.763_766del (MTERF2) XP_006719676.1:p.Leu255PhefsTer26
XM_011538767.1:c.763_766del (MTERF2) XP_011537069.1:p.Leu255PhefsTer26
XM_011538767.2:c.763_766del (MTERF2) XP_011537069.1:p.Leu255PhefsTer26
XM_017019985.2:c.763_766del (MTERF2) XP_016875474.1:p.Leu255PhefsTer26
XM_017019986.1:c.763_766del (MTERF2) XP_016875475.1:p.Leu255PhefsTer26
XM_017019987.1:c.763_766del (MTERF2) XP_016875476.1:p.Leu255PhefsTer26
NM_001033050.3:c.763_766del (MTERF2) MANE Select NP_001028222.1:p.Leu255PhefsTer26
NM_025198.5:c.763_766del (MTERF2) NP_079474.2:p.Leu255PhefsTer26