Canonical Allele Identifier: CA398222440

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896356A>G (hg19) ; chr17:g.12993039A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993039A>G , CM000679.2:g.12993039A>G	GRCh38
NC_000017.10:g.12896356A>G , CM000679.1:g.12896356A>G	GRCh37
NC_000017.9:g.12837081A>G	NCBI36
NG_015808.1:g.30026T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2260T>C MANE Select	ENSP00000337445.4:p.Phe754Leu
ENST00000338034.8:c.2260T>C	ENSP00000337445.4:p.Phe754Leu
ENST00000395962.6:c.2203T>C	ENSP00000379291.1:p.Phe735Leu
ENST00000426905.7:c.2140T>C	ENSP00000405223.3:p.Phe714Leu
ENST00000465825.5:n.2147T>C
ENST00000480891.5:n.2089T>C
ENST00000484122.5:n.3090T>C
ENST00000487229.6:n.1806T>C
ENST00000584650.5:c.1659T>C
NM_001165962.1:c.2140T>C	NP_001159434.1:p.Phe714Leu
NM_018127.6:c.2260T>C	NP_060597.4:p.Phe754Leu
NM_173717.1:c.2257T>C	NP_776065.1:p.Phe753Leu
XM_024450850.1:c.2419T>C	XP_024306618.1:p.Phe807Leu
XM_024450851.1:c.2341T>C	XP_024306619.1:p.Phe781Leu
XM_024450852.1:c.2338T>C	XP_024306620.1:p.Phe780Leu
XM_024450853.1:c.2335T>C	XP_024306621.1:p.Phe779Leu
XM_024450854.1:c.2299T>C	XP_024306622.1:p.Phe767Leu
XM_024450855.1:c.2218T>C	XP_024306623.1:p.Phe740Leu
XM_024450856.1:c.2137T>C	XP_024306624.1:p.Phe713Leu
XM_024450857.1:c.2137T>C	XP_024306625.1:p.Phe713Leu
XM_024450858.1:c.2056T>C	XP_024306626.1:p.Phe686Leu
XM_024450859.1:c.2053T>C	XP_024306627.1:p.Phe685Leu
XM_024450860.1:c.1978T>C	XP_024306628.1:p.Phe660Leu
XM_024450861.1:c.1978T>C	XP_024306629.1:p.Phe660Leu
XM_024450862.1:c.1975T>C	XP_024306630.1:p.Phe659Leu
NM_018127.7:c.2260T>C MANE Select	NP_060597.4:p.Phe754Leu
NM_001165962.2:c.2140T>C	NP_001159434.1:p.Phe714Leu
NM_173717.2:c.2257T>C	NP_776065.1:p.Phe753Leu