Canonical Allele Identifier: CA1817319963

Gene: NSMCE2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125255324C= , CM000670.2:g.125255324C=	GRCh38
NC_000008.10:g.126267566C= , CM000670.1:g.126267566C=	GRCh37
NC_000008.9:g.126336748C=	NCBI36
NG_053069.1:g.168507C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000287437.8:c.418+73068C= MANE Select	ENSP00000287437.3:n.418+73068C=
ENST00000287437.7:c.418+73068C=	ENSP00000287437.3:n.418+73068C=
ENST00000517315.1:c.238+73068C=	ENSP00000428846.1:n.238+73068C=
ENST00000517532.5:c.418+73068C=	ENSP00000429612.1:n.418+73068C=
ENST00000522563.5:c.418+73068C=	ENSP00000430668.1:n.418+73068C=
NM_173685.2:c.418+73068C=	NP_775956.1:n.418+73068C=
XM_005250875.2:c.418+73068C=	XP_005250932.1:n.418+73068C=
XM_005250876.3:c.418+73068C=	XP_005250933.1:n.418+73068C=
XM_011516974.1:c.418+73068C=	XP_011515276.1:n.418+73068C=
XM_011516975.1:c.418+73068C=	XP_011515277.1:n.418+73068C=
NM_001349485.1:c.418+73068C=	NP_001336414.1:n.418+73068C=
NM_001349486.1:c.418+73068C=	NP_001336415.1:n.418+73068C=
NM_173685.3:c.418+73068C=	NP_775956.1:n.418+73068C=
NR_146191.1:n.800+73068C=
XM_011516974.2:c.418+73068C=	XP_011515276.1:n.418+73068C=
XM_011516975.2:c.418+73068C=	XP_011515277.1:n.418+73068C=
XM_017013330.2:c.424+73068C=	XP_016868819.1:n.424+73068C=
XM_017013331.1:c.418+73068C=	XP_016868820.1:n.418+73068C=
XM_017013332.2:c.424+73068C=	XP_016868821.1:n.424+73068C=
XM_017013333.1:c.238+73068C=	XP_016868822.1:n.238+73068C=
XM_024447130.1:c.418+73068C=	XP_024302898.1:n.418+73068C=
NM_173685.4:c.418+73068C= MANE Select	NP_775956.1:n.418+73068C=
NM_001349485.2:c.418+73068C=	NP_001336414.1:n.418+73068C=
NM_001349486.2:c.418+73068C=	NP_001336415.1:n.418+73068C=
NR_146191.2:n.763+73068C=