Canonical Allele Identifier: CA846954299

Gene: NSMCE2

Linked Data

• dbSNP Id: rs1352787021
• MyVariant Identifiers: chr8:g.126267588_126267589insA (hg19) ; chr8:g.125255346_125255347insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125255349dup , CM000670.2:g.125255349dup	GRCh38
NC_000008.10:g.126267591dup , CM000670.1:g.126267591dup	GRCh37
NC_000008.9:g.126336773dup	NCBI36
NG_053069.1:g.168532dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000287437.8:c.418+73093dup MANE Select	ENSP00000287437.3:n.418+73093dup
ENST00000287437.7:c.418+73093dup	ENSP00000287437.3:n.418+73093dup
ENST00000517315.1:c.238+73093dup	ENSP00000428846.1:n.238+73093dup
ENST00000517532.5:c.418+73093dup	ENSP00000429612.1:n.418+73093dup
ENST00000522563.5:c.418+73093dup	ENSP00000430668.1:n.418+73093dup
NM_173685.2:c.418+73093dup	NP_775956.1:n.418+73093dup
XM_005250875.2:c.418+73093dup	XP_005250932.1:n.418+73093dup
XM_005250876.3:c.418+73093dup	XP_005250933.1:n.418+73093dup
XM_011516974.1:c.418+73093dup	XP_011515276.1:n.418+73093dup
XM_011516975.1:c.418+73093dup	XP_011515277.1:n.418+73093dup
NM_001349485.1:c.418+73093dup	NP_001336414.1:n.418+73093dup
NM_001349486.1:c.418+73093dup	NP_001336415.1:n.418+73093dup
NM_173685.3:c.418+73093dup	NP_775956.1:n.418+73093dup
NR_146191.1:n.800+73093dup
XM_011516974.2:c.418+73093dup	XP_011515276.1:n.418+73093dup
XM_011516975.2:c.418+73093dup	XP_011515277.1:n.418+73093dup
XM_017013330.2:c.424+73093dup	XP_016868819.1:n.424+73093dup
XM_017013331.1:c.418+73093dup	XP_016868820.1:n.418+73093dup
XM_017013332.2:c.424+73093dup	XP_016868821.1:n.424+73093dup
XM_017013333.1:c.238+73093dup	XP_016868822.1:n.238+73093dup
XM_024447130.1:c.418+73093dup	XP_024302898.1:n.418+73093dup
NM_173685.4:c.418+73093dup MANE Select	NP_775956.1:n.418+73093dup
NM_001349485.2:c.418+73093dup	NP_001336414.1:n.418+73093dup
NM_001349486.2:c.418+73093dup	NP_001336415.1:n.418+73093dup
NR_146191.2:n.763+73093dup