Canonical Allele Identifier: CA398222220

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896250T>A (hg19) ; chr17:g.12992933T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992933T>A , CM000679.2:g.12992933T>A	GRCh38
NC_000017.10:g.12896250T>A , CM000679.1:g.12896250T>A	GRCh37
NC_000017.9:g.12836975T>A	NCBI36
NG_015808.1:g.30132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2366A>T MANE Select	ENSP00000337445.4:p.Gln789Leu
ENST00000338034.8:c.2366A>T	ENSP00000337445.4:p.Gln789Leu
ENST00000395962.6:c.2309A>T	ENSP00000379291.1:p.Gln770Leu
ENST00000426905.7:c.2246A>T	ENSP00000405223.3:p.Gln749Leu
ENST00000465825.5:n.2253A>T
ENST00000480891.5:n.2195A>T
ENST00000484122.5:n.3196A>T
ENST00000487229.6:n.1912A>T
ENST00000584650.5:c.1765A>T
NM_001165962.1:c.2246A>T	NP_001159434.1:p.Gln749Leu
NM_018127.6:c.2366A>T	NP_060597.4:p.Gln789Leu
NM_173717.1:c.2363A>T	NP_776065.1:p.Gln788Leu
XM_024450850.1:c.2525A>T	XP_024306618.1:p.Gln842Leu
XM_024450851.1:c.2447A>T	XP_024306619.1:p.Gln816Leu
XM_024450852.1:c.2444A>T	XP_024306620.1:p.Gln815Leu
XM_024450853.1:c.2441A>T	XP_024306621.1:p.Gln814Leu
XM_024450854.1:c.2405A>T	XP_024306622.1:p.Gln802Leu
XM_024450855.1:c.2324A>T	XP_024306623.1:p.Gln775Leu
XM_024450856.1:c.2243A>T	XP_024306624.1:p.Gln748Leu
XM_024450857.1:c.2243A>T	XP_024306625.1:p.Gln748Leu
XM_024450858.1:c.2162A>T	XP_024306626.1:p.Gln721Leu
XM_024450859.1:c.2159A>T	XP_024306627.1:p.Gln720Leu
XM_024450860.1:c.2084A>T	XP_024306628.1:p.Gln695Leu
XM_024450861.1:c.2084A>T	XP_024306629.1:p.Gln695Leu
XM_024450862.1:c.2081A>T	XP_024306630.1:p.Gln694Leu
NM_018127.7:c.2366A>T MANE Select	NP_060597.4:p.Gln789Leu
NM_001165962.2:c.2246A>T	NP_001159434.1:p.Gln749Leu
NM_173717.2:c.2363A>T	NP_776065.1:p.Gln788Leu