Canonical Allele Identifier: CA398222425

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896349T>G (hg19) ; chr17:g.12993032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993032T>G , CM000679.2:g.12993032T>G	GRCh38
NC_000017.10:g.12896349T>G , CM000679.1:g.12896349T>G	GRCh37
NC_000017.9:g.12837074T>G	NCBI36
NG_015808.1:g.30033A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2267A>C MANE Select	ENSP00000337445.4:p.Asp756Ala
ENST00000338034.8:c.2267A>C	ENSP00000337445.4:p.Asp756Ala
ENST00000395962.6:c.2210A>C	ENSP00000379291.1:p.Asp737Ala
ENST00000426905.7:c.2147A>C	ENSP00000405223.3:p.Asp716Ala
ENST00000465825.5:n.2154A>C
ENST00000480891.5:n.2096A>C
ENST00000484122.5:n.3097A>C
ENST00000487229.6:n.1813A>C
ENST00000584650.5:c.1666A>C
NM_001165962.1:c.2147A>C	NP_001159434.1:p.Asp716Ala
NM_018127.6:c.2267A>C	NP_060597.4:p.Asp756Ala
NM_173717.1:c.2264A>C	NP_776065.1:p.Asp755Ala
XM_024450850.1:c.2426A>C	XP_024306618.1:p.Asp809Ala
XM_024450851.1:c.2348A>C	XP_024306619.1:p.Asp783Ala
XM_024450852.1:c.2345A>C	XP_024306620.1:p.Asp782Ala
XM_024450853.1:c.2342A>C	XP_024306621.1:p.Asp781Ala
XM_024450854.1:c.2306A>C	XP_024306622.1:p.Asp769Ala
XM_024450855.1:c.2225A>C	XP_024306623.1:p.Asp742Ala
XM_024450856.1:c.2144A>C	XP_024306624.1:p.Asp715Ala
XM_024450857.1:c.2144A>C	XP_024306625.1:p.Asp715Ala
XM_024450858.1:c.2063A>C	XP_024306626.1:p.Asp688Ala
XM_024450859.1:c.2060A>C	XP_024306627.1:p.Asp687Ala
XM_024450860.1:c.1985A>C	XP_024306628.1:p.Asp662Ala
XM_024450861.1:c.1985A>C	XP_024306629.1:p.Asp662Ala
XM_024450862.1:c.1982A>C	XP_024306630.1:p.Asp661Ala
NM_018127.7:c.2267A>C MANE Select	NP_060597.4:p.Asp756Ala
NM_001165962.2:c.2147A>C	NP_001159434.1:p.Asp716Ala
NM_173717.2:c.2264A>C	NP_776065.1:p.Asp755Ala