Canonical Allele Identifier: CA398222102

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896187T>A (hg19) ; chr17:g.12992870T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992870T>A , CM000679.2:g.12992870T>A	GRCh38
NC_000017.10:g.12896187T>A , CM000679.1:g.12896187T>A	GRCh37
NC_000017.9:g.12836912T>A	NCBI36
NG_015808.1:g.30195A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2429A>T MANE Select	ENSP00000337445.4:p.Gln810Leu
ENST00000338034.8:c.2429A>T	ENSP00000337445.4:p.Gln810Leu
ENST00000395962.6:c.2372A>T	ENSP00000379291.1:p.Gln791Leu
ENST00000426905.7:c.2309A>T	ENSP00000405223.3:p.Gln770Leu
ENST00000465825.5:n.2316A>T
ENST00000480891.5:n.2258A>T
ENST00000484122.5:n.3259A>T
ENST00000487229.6:n.1975A>T
ENST00000584650.5:c.1828A>T
NM_001165962.1:c.2309A>T	NP_001159434.1:p.Gln770Leu
NM_018127.6:c.2429A>T	NP_060597.4:p.Gln810Leu
NM_173717.1:c.2426A>T	NP_776065.1:p.Gln809Leu
XM_024450850.1:c.2588A>T	XP_024306618.1:p.Gln863Leu
XM_024450851.1:c.2510A>T	XP_024306619.1:p.Gln837Leu
XM_024450852.1:c.2507A>T	XP_024306620.1:p.Gln836Leu
XM_024450853.1:c.2504A>T	XP_024306621.1:p.Gln835Leu
XM_024450854.1:c.2468A>T	XP_024306622.1:p.Gln823Leu
XM_024450855.1:c.2387A>T	XP_024306623.1:p.Gln796Leu
XM_024450856.1:c.2306A>T	XP_024306624.1:p.Gln769Leu
XM_024450857.1:c.2306A>T	XP_024306625.1:p.Gln769Leu
XM_024450858.1:c.2225A>T	XP_024306626.1:p.Gln742Leu
XM_024450859.1:c.2222A>T	XP_024306627.1:p.Gln741Leu
XM_024450860.1:c.2147A>T	XP_024306628.1:p.Gln716Leu
XM_024450861.1:c.2147A>T	XP_024306629.1:p.Gln716Leu
XM_024450862.1:c.2144A>T	XP_024306630.1:p.Gln715Leu
NM_018127.7:c.2429A>T MANE Select	NP_060597.4:p.Gln810Leu
NM_001165962.2:c.2309A>T	NP_001159434.1:p.Gln770Leu
NM_173717.2:c.2426A>T	NP_776065.1:p.Gln809Leu