Canonical Allele Identifier: CA398222107

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896189C>A (hg19) ; chr17:g.12992872C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992872C>A , CM000679.2:g.12992872C>A	GRCh38
NC_000017.10:g.12896189C>A , CM000679.1:g.12896189C>A	GRCh37
NC_000017.9:g.12836914C>A	NCBI36
NG_015808.1:g.30193G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2427G>T MANE Select	ENSP00000337445.4:p.Gln809His
ENST00000338034.8:c.2427G>T	ENSP00000337445.4:p.Gln809His
ENST00000395962.6:c.2370G>T	ENSP00000379291.1:p.Gln790His
ENST00000426905.7:c.2307G>T	ENSP00000405223.3:p.Gln769His
ENST00000465825.5:n.2314G>T
ENST00000480891.5:n.2256G>T
ENST00000484122.5:n.3257G>T
ENST00000487229.6:n.1973G>T
ENST00000584650.5:c.1826G>T
NM_001165962.1:c.2307G>T	NP_001159434.1:p.Gln769His
NM_018127.6:c.2427G>T	NP_060597.4:p.Gln809His
NM_173717.1:c.2424G>T	NP_776065.1:p.Gln808His
XM_024450850.1:c.2586G>T	XP_024306618.1:p.Gln862His
XM_024450851.1:c.2508G>T	XP_024306619.1:p.Gln836His
XM_024450852.1:c.2505G>T	XP_024306620.1:p.Gln835His
XM_024450853.1:c.2502G>T	XP_024306621.1:p.Gln834His
XM_024450854.1:c.2466G>T	XP_024306622.1:p.Gln822His
XM_024450855.1:c.2385G>T	XP_024306623.1:p.Gln795His
XM_024450856.1:c.2304G>T	XP_024306624.1:p.Gln768His
XM_024450857.1:c.2304G>T	XP_024306625.1:p.Gln768His
XM_024450858.1:c.2223G>T	XP_024306626.1:p.Gln741His
XM_024450859.1:c.2220G>T	XP_024306627.1:p.Gln740His
XM_024450860.1:c.2145G>T	XP_024306628.1:p.Gln715His
XM_024450861.1:c.2145G>T	XP_024306629.1:p.Gln715His
XM_024450862.1:c.2142G>T	XP_024306630.1:p.Gln714His
NM_018127.7:c.2427G>T MANE Select	NP_060597.4:p.Gln809His
NM_001165962.2:c.2307G>T	NP_001159434.1:p.Gln769His
NM_173717.2:c.2424G>T	NP_776065.1:p.Gln808His