Canonical Allele Identifier: CA398222182

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896226C>G (hg19) ; chr17:g.12992909C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992909C>G , CM000679.2:g.12992909C>G	GRCh38
NC_000017.10:g.12896226C>G , CM000679.1:g.12896226C>G	GRCh37
NC_000017.9:g.12836951C>G	NCBI36
NG_015808.1:g.30156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2390G>C MANE Select	ENSP00000337445.4:p.Arg797Thr
ENST00000338034.8:c.2390G>C	ENSP00000337445.4:p.Arg797Thr
ENST00000395962.6:c.2333G>C	ENSP00000379291.1:p.Arg778Thr
ENST00000426905.7:c.2270G>C	ENSP00000405223.3:p.Arg757Thr
ENST00000465825.5:n.2277G>C
ENST00000480891.5:n.2219G>C
ENST00000484122.5:n.3220G>C
ENST00000487229.6:n.1936G>C
ENST00000584650.5:c.1789G>C
NM_001165962.1:c.2270G>C	NP_001159434.1:p.Arg757Thr
NM_018127.6:c.2390G>C	NP_060597.4:p.Arg797Thr
NM_173717.1:c.2387G>C	NP_776065.1:p.Arg796Thr
XM_024450850.1:c.2549G>C	XP_024306618.1:p.Arg850Thr
XM_024450851.1:c.2471G>C	XP_024306619.1:p.Arg824Thr
XM_024450852.1:c.2468G>C	XP_024306620.1:p.Arg823Thr
XM_024450853.1:c.2465G>C	XP_024306621.1:p.Arg822Thr
XM_024450854.1:c.2429G>C	XP_024306622.1:p.Arg810Thr
XM_024450855.1:c.2348G>C	XP_024306623.1:p.Arg783Thr
XM_024450856.1:c.2267G>C	XP_024306624.1:p.Arg756Thr
XM_024450857.1:c.2267G>C	XP_024306625.1:p.Arg756Thr
XM_024450858.1:c.2186G>C	XP_024306626.1:p.Arg729Thr
XM_024450859.1:c.2183G>C	XP_024306627.1:p.Arg728Thr
XM_024450860.1:c.2108G>C	XP_024306628.1:p.Arg703Thr
XM_024450861.1:c.2108G>C	XP_024306629.1:p.Arg703Thr
XM_024450862.1:c.2105G>C	XP_024306630.1:p.Arg702Thr
NM_018127.7:c.2390G>C MANE Select	NP_060597.4:p.Arg797Thr
NM_001165962.2:c.2270G>C	NP_001159434.1:p.Arg757Thr
NM_173717.2:c.2387G>C	NP_776065.1:p.Arg796Thr