Canonical Allele Identifier: CA658795797

Gene: MTIF2

Linked Data

• ClinVar Variation Id: 520564
• ClinVar RCV Id: RCV000623089
• dbSNP Id: rs1281877795
• MyVariant Identifiers: chr2:g.55476603_55476613del (hg19) ; chr2:g.55249467_55249477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55249469_55249479del , CM000664.2:g.55249469_55249479del	GRCh38
NC_000002.11:g.55476605_55476615del , CM000664.1:g.55476605_55476615del	GRCh37
NC_000002.10:g.55330109_55330119del	NCBI36
NG_047062.1:g.24827_24837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263629.9:c.899_909del MANE Select	ENSP00000263629.4:p.Val300AlafsTer9
ENST00000263629.8:c.899_909del	ENSP00000263629.4:p.Val300AlafsTer9
ENST00000394600.7:c.899_909del	ENSP00000378099.3:p.Val300AlafsTer9
ENST00000403721.5:c.899_909del	ENSP00000384481.1:p.Val300AlafsTer9
ENST00000418823.4:c.58_68del
NM_001005369.1:c.899_909del	NP_001005369.1:p.Val300AlafsTer9
NM_002453.2:c.899_909del	NP_002444.2:p.Val300AlafsTer9
XM_005264335.2:c.899_909del	XP_005264392.1:p.Val300AlafsTer9
XM_011532868.1:c.899_909del	XP_011531170.1:p.Val300AlafsTer9
XM_011532869.1:c.899_909del	XP_011531171.1:p.Val300AlafsTer9
XM_011532870.1:c.899_909del	XP_011531172.1:p.Val300AlafsTer9
XM_011532871.1:c.899_909del	XP_011531173.1:p.Val300AlafsTer9
XM_011532872.1:c.899_909del	XP_011531174.1:p.Val300AlafsTer9
XM_011532873.1:c.170_180del	XP_011531175.1:p.Val57AlafsTer9
NM_001321001.1:c.899_909del	NP_001307930.1:p.Val300AlafsTer9
NM_001321002.1:c.899_909del	NP_001307931.1:p.Val300AlafsTer9
NM_001321003.1:c.899_909del	NP_001307932.1:p.Val300AlafsTer9
NM_001321004.1:c.899_909del	NP_001307933.1:p.Val300AlafsTer9
NM_001321005.1:c.170_180del	NP_001307934.1:p.Val57AlafsTer9
XM_005264335.3:c.899_909del	XP_005264392.1:p.Val300AlafsTer9
XM_011532871.2:c.899_909del	XP_011531173.1:p.Val300AlafsTer9
XM_017004162.2:c.899_909del	XP_016859651.1:p.Val300AlafsTer9
XM_017004163.1:c.899_909del	XP_016859652.1:p.Val300AlafsTer9
XM_017004164.2:c.722_732del	XP_016859653.1:p.Val241AlafsTer9
XM_017004165.1:c.170_180del	XP_016859654.1:p.Val57AlafsTer9
XM_017004166.1:c.170_180del	XP_016859655.1:p.Val57AlafsTer9
XM_017004167.2:c.-95_-85del	XP_016859656.1:n.-95_-85del
NM_002453.3:c.899_909del MANE Select	NP_002444.2:p.Val300AlafsTer9