Canonical Allele Identifier: CA288074940

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1447336
• ClinVar RCV Id: RCV001979768
• dbSNP Id: rs922510869
• gnomAD v2: 17-12896190-T-A
• gnomAD v3: 17-12992873-T-A
• gnomAD v4: 17-12992873-T-A
• MyVariant Identifiers: chr17:g.12896190T>A (hg19) ; chr17:g.12992873T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992873T>A , CM000679.2:g.12992873T>A	GRCh38
NC_000017.10:g.12896190T>A , CM000679.1:g.12896190T>A	GRCh37
NC_000017.9:g.12836915T>A	NCBI36
NG_015808.1:g.30192A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2426A>T MANE Select	ENSP00000337445.4:p.Gln809Leu
ENST00000338034.8:c.2426A>T	ENSP00000337445.4:p.Gln809Leu
ENST00000395962.6:c.2369A>T	ENSP00000379291.1:p.Gln790Leu
ENST00000426905.7:c.2306A>T	ENSP00000405223.3:p.Gln769Leu
ENST00000465825.5:n.2313A>T
ENST00000480891.5:n.2255A>T
ENST00000484122.5:n.3256A>T
ENST00000487229.6:n.1972A>T
ENST00000584650.5:c.1825A>T
NM_001165962.1:c.2306A>T	NP_001159434.1:p.Gln769Leu
NM_018127.6:c.2426A>T	NP_060597.4:p.Gln809Leu
NM_173717.1:c.2423A>T	NP_776065.1:p.Gln808Leu
XM_024450850.1:c.2585A>T	XP_024306618.1:p.Gln862Leu
XM_024450851.1:c.2507A>T	XP_024306619.1:p.Gln836Leu
XM_024450852.1:c.2504A>T	XP_024306620.1:p.Gln835Leu
XM_024450853.1:c.2501A>T	XP_024306621.1:p.Gln834Leu
XM_024450854.1:c.2465A>T	XP_024306622.1:p.Gln822Leu
XM_024450855.1:c.2384A>T	XP_024306623.1:p.Gln795Leu
XM_024450856.1:c.2303A>T	XP_024306624.1:p.Gln768Leu
XM_024450857.1:c.2303A>T	XP_024306625.1:p.Gln768Leu
XM_024450858.1:c.2222A>T	XP_024306626.1:p.Gln741Leu
XM_024450859.1:c.2219A>T	XP_024306627.1:p.Gln740Leu
XM_024450860.1:c.2144A>T	XP_024306628.1:p.Gln715Leu
XM_024450861.1:c.2144A>T	XP_024306629.1:p.Gln715Leu
XM_024450862.1:c.2141A>T	XP_024306630.1:p.Gln714Leu
NM_018127.7:c.2426A>T MANE Select	NP_060597.4:p.Gln809Leu
NM_001165962.2:c.2306A>T	NP_001159434.1:p.Gln769Leu
NM_173717.2:c.2423A>T	NP_776065.1:p.Gln808Leu