Canonical Allele Identifier: CA398222099

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896186C>A (hg19) ; chr17:g.12992869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992869C>A , CM000679.2:g.12992869C>A	GRCh38
NC_000017.10:g.12896186C>A , CM000679.1:g.12896186C>A	GRCh37
NC_000017.9:g.12836911C>A	NCBI36
NG_015808.1:g.30196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2430G>T MANE Select	ENSP00000337445.4:p.Gln810His
ENST00000338034.8:c.2430G>T	ENSP00000337445.4:p.Gln810His
ENST00000395962.6:c.2373G>T	ENSP00000379291.1:p.Gln791His
ENST00000426905.7:c.2310G>T	ENSP00000405223.3:p.Gln770His
ENST00000465825.5:n.2317G>T
ENST00000480891.5:n.2259G>T
ENST00000484122.5:n.3260G>T
ENST00000487229.6:n.1976G>T
ENST00000584650.5:c.1829G>T
NM_001165962.1:c.2310G>T	NP_001159434.1:p.Gln770His
NM_018127.6:c.2430G>T	NP_060597.4:p.Gln810His
NM_173717.1:c.2427G>T	NP_776065.1:p.Gln809His
XM_024450850.1:c.2589G>T	XP_024306618.1:p.Gln863His
XM_024450851.1:c.2511G>T	XP_024306619.1:p.Gln837His
XM_024450852.1:c.2508G>T	XP_024306620.1:p.Gln836His
XM_024450853.1:c.2505G>T	XP_024306621.1:p.Gln835His
XM_024450854.1:c.2469G>T	XP_024306622.1:p.Gln823His
XM_024450855.1:c.2388G>T	XP_024306623.1:p.Gln796His
XM_024450856.1:c.2307G>T	XP_024306624.1:p.Gln769His
XM_024450857.1:c.2307G>T	XP_024306625.1:p.Gln769His
XM_024450858.1:c.2226G>T	XP_024306626.1:p.Gln742His
XM_024450859.1:c.2223G>T	XP_024306627.1:p.Gln741His
XM_024450860.1:c.2148G>T	XP_024306628.1:p.Gln716His
XM_024450861.1:c.2148G>T	XP_024306629.1:p.Gln716His
XM_024450862.1:c.2145G>T	XP_024306630.1:p.Gln715His
NM_018127.7:c.2430G>T MANE Select	NP_060597.4:p.Gln810His
NM_001165962.2:c.2310G>T	NP_001159434.1:p.Gln770His
NM_173717.2:c.2427G>T	NP_776065.1:p.Gln809His