Canonical Allele Identifier: CA398222176

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992906-T-C
• MyVariant Identifiers: chr17:g.12896223T>C (hg19) ; chr17:g.12992906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992906T>C , CM000679.2:g.12992906T>C	GRCh38
NC_000017.10:g.12896223T>C , CM000679.1:g.12896223T>C	GRCh37
NC_000017.9:g.12836948T>C	NCBI36
NG_015808.1:g.30159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2393A>G MANE Select	ENSP00000337445.4:p.Glu798Gly
ENST00000338034.8:c.2393A>G	ENSP00000337445.4:p.Glu798Gly
ENST00000395962.6:c.2336A>G	ENSP00000379291.1:p.Glu779Gly
ENST00000426905.7:c.2273A>G	ENSP00000405223.3:p.Glu758Gly
ENST00000465825.5:n.2280A>G
ENST00000480891.5:n.2222A>G
ENST00000484122.5:n.3223A>G
ENST00000487229.6:n.1939A>G
ENST00000584650.5:c.1792A>G
NM_001165962.1:c.2273A>G	NP_001159434.1:p.Glu758Gly
NM_018127.6:c.2393A>G	NP_060597.4:p.Glu798Gly
NM_173717.1:c.2390A>G	NP_776065.1:p.Glu797Gly
XM_024450850.1:c.2552A>G	XP_024306618.1:p.Glu851Gly
XM_024450851.1:c.2474A>G	XP_024306619.1:p.Glu825Gly
XM_024450852.1:c.2471A>G	XP_024306620.1:p.Glu824Gly
XM_024450853.1:c.2468A>G	XP_024306621.1:p.Glu823Gly
XM_024450854.1:c.2432A>G	XP_024306622.1:p.Glu811Gly
XM_024450855.1:c.2351A>G	XP_024306623.1:p.Glu784Gly
XM_024450856.1:c.2270A>G	XP_024306624.1:p.Glu757Gly
XM_024450857.1:c.2270A>G	XP_024306625.1:p.Glu757Gly
XM_024450858.1:c.2189A>G	XP_024306626.1:p.Glu730Gly
XM_024450859.1:c.2186A>G	XP_024306627.1:p.Glu729Gly
XM_024450860.1:c.2111A>G	XP_024306628.1:p.Glu704Gly
XM_024450861.1:c.2111A>G	XP_024306629.1:p.Glu704Gly
XM_024450862.1:c.2108A>G	XP_024306630.1:p.Glu703Gly
NM_018127.7:c.2393A>G MANE Select	NP_060597.4:p.Glu798Gly
NM_001165962.2:c.2273A>G	NP_001159434.1:p.Glu758Gly
NM_173717.2:c.2390A>G	NP_776065.1:p.Glu797Gly