Canonical Allele Identifier: CA4874373

Gene: NSMCE2

Linked Data

• ClinVar Variation Id: 372285
• ClinVar RCV Id: RCV000412505 ; RCV002523902
• dbSNP Id: rs757613817
• ExAC: 8:126194424 AT / A
• gnomAD v2: 8-126194424-AT-A
• gnomAD v3: 8-125182182-AT-A
• gnomAD v4: 8-125182182-AT-A
• MyVariant Identifiers: chr8:g.126194426del (hg19) ; chr8:g.126194425del (hg19) ; chr8:g.125182184del (hg38) ; chr8:g.125182183del (hg38)
• PubMed: PMID:25105364

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125182184del , CM000670.2:g.125182184del	GRCh38
NC_000008.10:g.126194426del , CM000670.1:g.126194426del	GRCh37
NC_000008.9:g.126263608del	NCBI36
NG_053069.1:g.95367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287437.8:c.346del MANE Select	ENSP00000287437.3:p.Ser116LeufsTer18
ENST00000287437.7:c.346del	ENSP00000287437.3:p.Ser116LeufsTer18
ENST00000517315.1:c.166del	ENSP00000428846.1:p.Ser56LeufsTer18
ENST00000517532.5:c.346del	ENSP00000429612.1:p.Ser116LeufsTer18
ENST00000518146.5:c.*245del	ENSP00000430313.1:n.*245del
ENST00000519010.5:c.346del	ENSP00000481615.1:p.Ser116LeufsTer18
ENST00000519712.1:c.418del	ENSP00000429014.1:n.418del
ENST00000520866.5:c.346del	ENSP00000478256.1:p.Ser116LeufsTer18
ENST00000522563.5:c.346del	ENSP00000430668.1:p.Ser116LeufsTer18
ENST00000523741.5:c.346del	ENSP00000429383.1:p.Ser116LeufsTer18
NM_173685.2:c.346del	NP_775956.1:p.Ser116LeufsTer18
XM_005250875.2:c.346del	XP_005250932.1:p.Ser116LeufsTer18
XM_005250876.3:c.346del	XP_005250933.1:p.Ser116LeufsTer18
XM_011516974.1:c.346del	XP_011515276.1:p.Ser116LeufsTer18
XM_011516975.1:c.346del	XP_011515277.1:p.Ser116LeufsTer18
NM_001349485.1:c.346del	NP_001336414.1:p.Ser116LeufsTer18
NM_001349486.1:c.346del	NP_001336415.1:p.Ser116LeufsTer18
NM_001349487.1:c.346del	NP_001336416.1:p.Ser116LeufsTer18
NM_173685.3:c.346del	NP_775956.1:p.Ser116LeufsTer18
NR_146191.1:n.728del
NR_146192.1:n.728del
XM_011516974.2:c.346del	XP_011515276.1:p.Ser116LeufsTer18
XM_011516975.2:c.346del	XP_011515277.1:p.Ser116LeufsTer18
XM_017013330.2:c.352del	XP_016868819.1:p.Ser118LeufsTer18
XM_017013331.1:c.346del	XP_016868820.1:p.Ser116LeufsTer18
XM_017013332.2:c.352del	XP_016868821.1:p.Ser118LeufsTer18
XM_017013333.1:c.166del	XP_016868822.1:p.Ser56LeufsTer18
XM_017013334.1:c.352del	XP_016868823.1:p.Ser118LeufsTer18
XM_024447130.1:c.346del	XP_024302898.1:p.Ser116LeufsTer18
NM_173685.4:c.346del MANE Select	NP_775956.1:p.Ser116LeufsTer18
NM_001349485.2:c.346del	NP_001336414.1:p.Ser116LeufsTer18
NM_001349486.2:c.346del	NP_001336415.1:p.Ser116LeufsTer18
NM_001349487.2:c.346del	NP_001336416.1:p.Ser116LeufsTer18
NR_146191.2:n.691del
NR_146192.2:n.691del