Canonical Allele Identifier: CA398222313

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896295T>A (hg19) ; chr17:g.12992978T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992978T>A , CM000679.2:g.12992978T>A	GRCh38
NC_000017.10:g.12896295T>A , CM000679.1:g.12896295T>A	GRCh37
NC_000017.9:g.12837020T>A	NCBI36
NG_015808.1:g.30087A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2321A>T MANE Select	ENSP00000337445.4:p.Asp774Val
ENST00000338034.8:c.2321A>T	ENSP00000337445.4:p.Asp774Val
ENST00000395962.6:c.2264A>T	ENSP00000379291.1:p.Asp755Val
ENST00000426905.7:c.2201A>T	ENSP00000405223.3:p.Asp734Val
ENST00000465825.5:n.2208A>T
ENST00000480891.5:n.2150A>T
ENST00000484122.5:n.3151A>T
ENST00000487229.6:n.1867A>T
ENST00000584650.5:c.1720A>T
NM_001165962.1:c.2201A>T	NP_001159434.1:p.Asp734Val
NM_018127.6:c.2321A>T	NP_060597.4:p.Asp774Val
NM_173717.1:c.2318A>T	NP_776065.1:p.Asp773Val
XM_024450850.1:c.2480A>T	XP_024306618.1:p.Asp827Val
XM_024450851.1:c.2402A>T	XP_024306619.1:p.Asp801Val
XM_024450852.1:c.2399A>T	XP_024306620.1:p.Asp800Val
XM_024450853.1:c.2396A>T	XP_024306621.1:p.Asp799Val
XM_024450854.1:c.2360A>T	XP_024306622.1:p.Asp787Val
XM_024450855.1:c.2279A>T	XP_024306623.1:p.Asp760Val
XM_024450856.1:c.2198A>T	XP_024306624.1:p.Asp733Val
XM_024450857.1:c.2198A>T	XP_024306625.1:p.Asp733Val
XM_024450858.1:c.2117A>T	XP_024306626.1:p.Asp706Val
XM_024450859.1:c.2114A>T	XP_024306627.1:p.Asp705Val
XM_024450860.1:c.2039A>T	XP_024306628.1:p.Asp680Val
XM_024450861.1:c.2039A>T	XP_024306629.1:p.Asp680Val
XM_024450862.1:c.2036A>T	XP_024306630.1:p.Asp679Val
NM_018127.7:c.2321A>T MANE Select	NP_060597.4:p.Asp774Val
NM_001165962.2:c.2201A>T	NP_001159434.1:p.Asp734Val
NM_173717.2:c.2318A>T	NP_776065.1:p.Asp773Val