Canonical Allele Identifier: CA398222399

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896337A>G (hg19) ; chr17:g.12993020A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993020A>G , CM000679.2:g.12993020A>G	GRCh38
NC_000017.10:g.12896337A>G , CM000679.1:g.12896337A>G	GRCh37
NC_000017.9:g.12837062A>G	NCBI36
NG_015808.1:g.30045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2279T>C MANE Select	ENSP00000337445.4:p.Met760Thr
ENST00000338034.8:c.2279T>C	ENSP00000337445.4:p.Met760Thr
ENST00000395962.6:c.2222T>C	ENSP00000379291.1:p.Met741Thr
ENST00000426905.7:c.2159T>C	ENSP00000405223.3:p.Met720Thr
ENST00000465825.5:n.2166T>C
ENST00000480891.5:n.2108T>C
ENST00000484122.5:n.3109T>C
ENST00000487229.6:n.1825T>C
ENST00000584650.5:c.1678T>C
NM_001165962.1:c.2159T>C	NP_001159434.1:p.Met720Thr
NM_018127.6:c.2279T>C	NP_060597.4:p.Met760Thr
NM_173717.1:c.2276T>C	NP_776065.1:p.Met759Thr
XM_024450850.1:c.2438T>C	XP_024306618.1:p.Met813Thr
XM_024450851.1:c.2360T>C	XP_024306619.1:p.Met787Thr
XM_024450852.1:c.2357T>C	XP_024306620.1:p.Met786Thr
XM_024450853.1:c.2354T>C	XP_024306621.1:p.Met785Thr
XM_024450854.1:c.2318T>C	XP_024306622.1:p.Met773Thr
XM_024450855.1:c.2237T>C	XP_024306623.1:p.Met746Thr
XM_024450856.1:c.2156T>C	XP_024306624.1:p.Met719Thr
XM_024450857.1:c.2156T>C	XP_024306625.1:p.Met719Thr
XM_024450858.1:c.2075T>C	XP_024306626.1:p.Met692Thr
XM_024450859.1:c.2072T>C	XP_024306627.1:p.Met691Thr
XM_024450860.1:c.1997T>C	XP_024306628.1:p.Met666Thr
XM_024450861.1:c.1997T>C	XP_024306629.1:p.Met666Thr
XM_024450862.1:c.1994T>C	XP_024306630.1:p.Met665Thr
NM_018127.7:c.2279T>C MANE Select	NP_060597.4:p.Met760Thr
NM_001165962.2:c.2159T>C	NP_001159434.1:p.Met720Thr
NM_173717.2:c.2276T>C	NP_776065.1:p.Met759Thr