Canonical Allele Identifier: CA398222315

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992978-T-G
• MyVariant Identifiers: chr17:g.12896295T>G (hg19) ; chr17:g.12992978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992978T>G , CM000679.2:g.12992978T>G	GRCh38
NC_000017.10:g.12896295T>G , CM000679.1:g.12896295T>G	GRCh37
NC_000017.9:g.12837020T>G	NCBI36
NG_015808.1:g.30087A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2321A>C MANE Select	ENSP00000337445.4:p.Asp774Ala
ENST00000338034.8:c.2321A>C	ENSP00000337445.4:p.Asp774Ala
ENST00000395962.6:c.2264A>C	ENSP00000379291.1:p.Asp755Ala
ENST00000426905.7:c.2201A>C	ENSP00000405223.3:p.Asp734Ala
ENST00000465825.5:n.2208A>C
ENST00000480891.5:n.2150A>C
ENST00000484122.5:n.3151A>C
ENST00000487229.6:n.1867A>C
ENST00000584650.5:c.1720A>C
NM_001165962.1:c.2201A>C	NP_001159434.1:p.Asp734Ala
NM_018127.6:c.2321A>C	NP_060597.4:p.Asp774Ala
NM_173717.1:c.2318A>C	NP_776065.1:p.Asp773Ala
XM_024450850.1:c.2480A>C	XP_024306618.1:p.Asp827Ala
XM_024450851.1:c.2402A>C	XP_024306619.1:p.Asp801Ala
XM_024450852.1:c.2399A>C	XP_024306620.1:p.Asp800Ala
XM_024450853.1:c.2396A>C	XP_024306621.1:p.Asp799Ala
XM_024450854.1:c.2360A>C	XP_024306622.1:p.Asp787Ala
XM_024450855.1:c.2279A>C	XP_024306623.1:p.Asp760Ala
XM_024450856.1:c.2198A>C	XP_024306624.1:p.Asp733Ala
XM_024450857.1:c.2198A>C	XP_024306625.1:p.Asp733Ala
XM_024450858.1:c.2117A>C	XP_024306626.1:p.Asp706Ala
XM_024450859.1:c.2114A>C	XP_024306627.1:p.Asp705Ala
XM_024450860.1:c.2039A>C	XP_024306628.1:p.Asp680Ala
XM_024450861.1:c.2039A>C	XP_024306629.1:p.Asp680Ala
XM_024450862.1:c.2036A>C	XP_024306630.1:p.Asp679Ala
NM_018127.7:c.2321A>C MANE Select	NP_060597.4:p.Asp774Ala
NM_001165962.2:c.2201A>C	NP_001159434.1:p.Asp734Ala
NM_173717.2:c.2318A>C	NP_776065.1:p.Asp773Ala