Canonical Allele Identifier: CA3225932379

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13002176G= , CM000679.2:g.13002176G=	GRCh38
NC_000017.10:g.12905493G= , CM000679.1:g.12905493G=	GRCh37
NC_000017.9:g.12846218G=	NCBI36
NG_015808.1:g.20889C=

Transcript Alleles

HGVS	Amino-acid Change
NM_018127.7:c.1304+98C= MANE Select	NP_060597.4:n.1304+98C=
ENST00000338034.9:c.1304+98C= MANE Select	ENSP00000337445.4:n.1304+98C=
NM_001165962.1:c.1184+98C=	NP_001159434.1:n.1184+98C=
NM_001165962.2:c.1184+98C=	NP_001159434.1:n.1184+98C=
NM_018127.6:c.1304+98C=	NP_060597.4:n.1304+98C=
NM_173717.1:c.1301+98C=	NP_776065.1:n.1301+98C=
NM_173717.2:c.1301+98C=	NP_776065.1:n.1301+98C=
ENST00000338034.8:c.1304+98C=	ENSP00000337445.4:n.1304+98C=
ENST00000395962.6:c.1247+98C=	ENSP00000379291.1:n.1247+98C=
ENST00000426905.7:c.1184+98C=	ENSP00000405223.3:n.1184+98C=
ENST00000446899.5:c.642+98C=
ENST00000476042.1:c.330+98C=
ENST00000480891.5:n.1133+98C=
ENST00000484122.5:n.1566+98C=
ENST00000487229.6:n.850+98C=
ENST00000492559.5:n.111+98C=
ENST00000578104.1:n.614+98C=
ENST00000578991.5:n.371+98C=
ENST00000584650.5:c.703+98C=
XM_024450850.1:c.1385+98C=	XP_024306618.1:n.1385+98C=
XM_024450851.1:c.1385+98C=	XP_024306619.1:n.1385+98C=
XM_024450852.1:c.1304+98C=	XP_024306620.1:n.1304+98C=
XM_024450853.1:c.1301+98C=	XP_024306621.1:n.1301+98C=
XM_024450854.1:c.1265+98C=	XP_024306622.1:n.1265+98C=
XM_024450855.1:c.1184+98C=	XP_024306623.1:n.1184+98C=
XM_024450856.1:c.1103+98C=	XP_024306624.1:n.1103+98C=
XM_024450857.1:c.1103+98C=	XP_024306625.1:n.1103+98C=
XM_024450858.1:c.1022+98C=	XP_024306626.1:n.1022+98C=
XM_024450859.1:c.1019+98C=	XP_024306627.1:n.1019+98C=
XM_024450860.1:c.1022+98C=	XP_024306628.1:n.1022+98C=
XM_024450861.1:c.1022+98C=	XP_024306629.1:n.1022+98C=
XM_024450862.1:c.1019+98C=	XP_024306630.1:n.1019+98C=