Canonical Allele Identifier: CA398222307

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896292A>G (hg19) ; chr17:g.12992975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992975A>G , CM000679.2:g.12992975A>G	GRCh38
NC_000017.10:g.12896292A>G , CM000679.1:g.12896292A>G	GRCh37
NC_000017.9:g.12837017A>G	NCBI36
NG_015808.1:g.30090T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2324T>C MANE Select	ENSP00000337445.4:p.Ile775Thr
ENST00000338034.8:c.2324T>C	ENSP00000337445.4:p.Ile775Thr
ENST00000395962.6:c.2267T>C	ENSP00000379291.1:p.Ile756Thr
ENST00000426905.7:c.2204T>C	ENSP00000405223.3:p.Ile735Thr
ENST00000465825.5:n.2211T>C
ENST00000480891.5:n.2153T>C
ENST00000484122.5:n.3154T>C
ENST00000487229.6:n.1870T>C
ENST00000584650.5:c.1723T>C
NM_001165962.1:c.2204T>C	NP_001159434.1:p.Ile735Thr
NM_018127.6:c.2324T>C	NP_060597.4:p.Ile775Thr
NM_173717.1:c.2321T>C	NP_776065.1:p.Ile774Thr
XM_024450850.1:c.2483T>C	XP_024306618.1:p.Ile828Thr
XM_024450851.1:c.2405T>C	XP_024306619.1:p.Ile802Thr
XM_024450852.1:c.2402T>C	XP_024306620.1:p.Ile801Thr
XM_024450853.1:c.2399T>C	XP_024306621.1:p.Ile800Thr
XM_024450854.1:c.2363T>C	XP_024306622.1:p.Ile788Thr
XM_024450855.1:c.2282T>C	XP_024306623.1:p.Ile761Thr
XM_024450856.1:c.2201T>C	XP_024306624.1:p.Ile734Thr
XM_024450857.1:c.2201T>C	XP_024306625.1:p.Ile734Thr
XM_024450858.1:c.2120T>C	XP_024306626.1:p.Ile707Thr
XM_024450859.1:c.2117T>C	XP_024306627.1:p.Ile706Thr
XM_024450860.1:c.2042T>C	XP_024306628.1:p.Ile681Thr
XM_024450861.1:c.2042T>C	XP_024306629.1:p.Ile681Thr
XM_024450862.1:c.2039T>C	XP_024306630.1:p.Ile680Thr
NM_018127.7:c.2324T>C MANE Select	NP_060597.4:p.Ile775Thr
NM_001165962.2:c.2204T>C	NP_001159434.1:p.Ile735Thr
NM_173717.2:c.2321T>C	NP_776065.1:p.Ile774Thr