Canonical Allele Identifier: CA2248421655

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992967T= , CM000679.2:g.12992967T=	GRCh38
NC_000017.10:g.12896284T= , CM000679.1:g.12896284T=	GRCh37
NC_000017.9:g.12837009T=	NCBI36
NG_015808.1:g.30098A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.2332A= MANE Select	ENSP00000337445.4:p.Met778=
ENST00000338034.8:c.2332A=	ENSP00000337445.4:p.Met778=
ENST00000395962.6:c.2275A=	ENSP00000379291.1:p.Met759=
ENST00000426905.7:c.2212A=	ENSP00000405223.3:p.Met738=
ENST00000465825.5:n.2219A=
ENST00000480891.5:n.2161A=
ENST00000484122.5:n.3162A=
ENST00000487229.6:n.1878A=
ENST00000584650.5:c.1731A=
NM_001165962.1:c.2212A=	NP_001159434.1:p.Met738=
NM_018127.6:c.2332A=	NP_060597.4:p.Met778=
NM_173717.1:c.2329A=	NP_776065.1:p.Met777=
XM_024450850.1:c.2491A=	XP_024306618.1:p.Met831=
XM_024450851.1:c.2413A=	XP_024306619.1:p.Met805=
XM_024450852.1:c.2410A=	XP_024306620.1:p.Met804=
XM_024450853.1:c.2407A=	XP_024306621.1:p.Met803=
XM_024450854.1:c.2371A=	XP_024306622.1:p.Met791=
XM_024450855.1:c.2290A=	XP_024306623.1:p.Met764=
XM_024450856.1:c.2209A=	XP_024306624.1:p.Met737=
XM_024450857.1:c.2209A=	XP_024306625.1:p.Met737=
XM_024450858.1:c.2128A=	XP_024306626.1:p.Met710=
XM_024450859.1:c.2125A=	XP_024306627.1:p.Met709=
XM_024450860.1:c.2050A=	XP_024306628.1:p.Met684=
XM_024450861.1:c.2050A=	XP_024306629.1:p.Met684=
XM_024450862.1:c.2047A=	XP_024306630.1:p.Met683=
NM_018127.7:c.2332A= MANE Select	NP_060597.4:p.Met778=
NM_001165962.2:c.2212A=	NP_001159434.1:p.Met738=
NM_173717.2:c.2329A=	NP_776065.1:p.Met777=