Canonical Allele Identifier: CA498009729

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896354A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993037A>G , CM000679.2:g.12993037A>G	GRCh38
NC_000017.10:g.12896354A>G , CM000679.1:g.12896354A>G	GRCh37
NC_000017.9:g.12837079A>G	NCBI36
NG_015808.1:g.30028T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2262T>C MANE Select	ENSP00000337445.4:p.Phe754=
ENST00000338034.8:c.2262T>C	ENSP00000337445.4:p.Phe754=
ENST00000395962.6:c.2205T>C	ENSP00000379291.1:p.Phe735=
ENST00000426905.7:c.2142T>C	ENSP00000405223.3:p.Phe714=
ENST00000465825.5:n.2149T>C
ENST00000480891.5:n.2091T>C
ENST00000484122.5:n.3092T>C
ENST00000487229.6:n.1808T>C
ENST00000584650.5:c.1661T>C
NM_001165962.1:c.2142T>C	NP_001159434.1:p.Phe714=
NM_018127.6:c.2262T>C	NP_060597.4:p.Phe754=
NM_173717.1:c.2259T>C	NP_776065.1:p.Phe753=
XM_024450850.1:c.2421T>C	XP_024306618.1:p.Phe807=
XM_024450851.1:c.2343T>C	XP_024306619.1:p.Phe781=
XM_024450852.1:c.2340T>C	XP_024306620.1:p.Phe780=
XM_024450853.1:c.2337T>C	XP_024306621.1:p.Phe779=
XM_024450854.1:c.2301T>C	XP_024306622.1:p.Phe767=
XM_024450855.1:c.2220T>C	XP_024306623.1:p.Phe740=
XM_024450856.1:c.2139T>C	XP_024306624.1:p.Phe713=
XM_024450857.1:c.2139T>C	XP_024306625.1:p.Phe713=
XM_024450858.1:c.2058T>C	XP_024306626.1:p.Phe686=
XM_024450859.1:c.2055T>C	XP_024306627.1:p.Phe685=
XM_024450860.1:c.1980T>C	XP_024306628.1:p.Phe660=
XM_024450861.1:c.1980T>C	XP_024306629.1:p.Phe660=
XM_024450862.1:c.1977T>C	XP_024306630.1:p.Phe659=
NM_018127.7:c.2262T>C MANE Select	NP_060597.4:p.Phe754=
NM_001165962.2:c.2142T>C	NP_001159434.1:p.Phe714=
NM_173717.2:c.2259T>C	NP_776065.1:p.Phe753=