Canonical Allele Identifier: CA2248403147

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13014469A= , CM000679.2:g.13014469A=	GRCh38
NC_000017.10:g.12917786A= , CM000679.1:g.12917786A=	GRCh37
NC_000017.9:g.12858511A=	NCBI36
NG_015808.1:g.8596T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.460T= MANE Select	ENSP00000337445.4:p.Phe154=
ENST00000338034.8:c.460T=	ENSP00000337445.4:p.Phe154=
ENST00000395962.6:c.403T=	ENSP00000379291.1:p.Phe135=
ENST00000426905.7:c.460T=	ENSP00000405223.3:p.Phe154=
ENST00000484122.5:n.722T=
ENST00000578071.1:c.433-1194T=	ENSP00000477482.1:n.433-1194T=
ENST00000580504.5:c.178T=	ENSP00000463594.1:p.Phe60=
ENST00000581499.6:c.178T=	ENSP00000463321.2:p.Phe60=
ENST00000583371.5:c.178T=	ENSP00000464358.1:p.Phe60=
ENST00000609101.5:c.178T=	ENSP00000477044.1:p.Phe60=
ENST00000609345.1:n.257T=
ENST00000609757.5:c.178T=	ENSP00000477093.1:p.Phe60=
NM_001165962.1:c.460T=	NP_001159434.1:p.Phe154=
NM_018127.6:c.460T=	NP_060597.4:p.Phe154=
NM_173717.1:c.460T=	NP_776065.1:p.Phe154=
XM_024450850.1:c.460T=	XP_024306618.1:p.Phe154=
XM_024450851.1:c.460T=	XP_024306619.1:p.Phe154=
XM_024450852.1:c.460T=	XP_024306620.1:p.Phe154=
XM_024450853.1:c.460T=	XP_024306621.1:p.Phe154=
XM_024450854.1:c.460T=	XP_024306622.1:p.Phe154=
XM_024450855.1:c.460T=	XP_024306623.1:p.Phe154=
XM_024450856.1:c.178T=	XP_024306624.1:p.Phe60=
XM_024450857.1:c.178T=	XP_024306625.1:p.Phe60=
XM_024450858.1:c.178T=	XP_024306626.1:p.Phe60=
XM_024450859.1:c.178T=	XP_024306627.1:p.Phe60=
XM_024450860.1:c.178T=	XP_024306628.1:p.Phe60=
XM_024450861.1:c.178T=	XP_024306629.1:p.Phe60=
XM_024450862.1:c.178T=	XP_024306630.1:p.Phe60=
NM_018127.7:c.460T= MANE Select	NP_060597.4:p.Phe154=
NM_001165962.2:c.460T=	NP_001159434.1:p.Phe154=
NM_173717.2:c.460T=	NP_776065.1:p.Phe154=