Canonical Allele Identifier: CA398222335

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896305A>C (hg19) ; chr17:g.12992988A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992988A>C , CM000679.2:g.12992988A>C	GRCh38
NC_000017.10:g.12896305A>C , CM000679.1:g.12896305A>C	GRCh37
NC_000017.9:g.12837030A>C	NCBI36
NG_015808.1:g.30077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2311T>G MANE Select	ENSP00000337445.4:p.Phe771Val
ENST00000338034.8:c.2311T>G	ENSP00000337445.4:p.Phe771Val
ENST00000395962.6:c.2254T>G	ENSP00000379291.1:p.Phe752Val
ENST00000426905.7:c.2191T>G	ENSP00000405223.3:p.Phe731Val
ENST00000465825.5:n.2198T>G
ENST00000480891.5:n.2140T>G
ENST00000484122.5:n.3141T>G
ENST00000487229.6:n.1857T>G
ENST00000584650.5:c.1710T>G
NM_001165962.1:c.2191T>G	NP_001159434.1:p.Phe731Val
NM_018127.6:c.2311T>G	NP_060597.4:p.Phe771Val
NM_173717.1:c.2308T>G	NP_776065.1:p.Phe770Val
XM_024450850.1:c.2470T>G	XP_024306618.1:p.Phe824Val
XM_024450851.1:c.2392T>G	XP_024306619.1:p.Phe798Val
XM_024450852.1:c.2389T>G	XP_024306620.1:p.Phe797Val
XM_024450853.1:c.2386T>G	XP_024306621.1:p.Phe796Val
XM_024450854.1:c.2350T>G	XP_024306622.1:p.Phe784Val
XM_024450855.1:c.2269T>G	XP_024306623.1:p.Phe757Val
XM_024450856.1:c.2188T>G	XP_024306624.1:p.Phe730Val
XM_024450857.1:c.2188T>G	XP_024306625.1:p.Phe730Val
XM_024450858.1:c.2107T>G	XP_024306626.1:p.Phe703Val
XM_024450859.1:c.2104T>G	XP_024306627.1:p.Phe702Val
XM_024450860.1:c.2029T>G	XP_024306628.1:p.Phe677Val
XM_024450861.1:c.2029T>G	XP_024306629.1:p.Phe677Val
XM_024450862.1:c.2026T>G	XP_024306630.1:p.Phe676Val
NM_018127.7:c.2311T>G MANE Select	NP_060597.4:p.Phe771Val
NM_001165962.2:c.2191T>G	NP_001159434.1:p.Phe731Val
NM_173717.2:c.2308T>G	NP_776065.1:p.Phe770Val