Canonical Allele Identifier: CA398222093

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896183C>G (hg19) ; chr17:g.12992866C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992866C>G , CM000679.2:g.12992866C>G	GRCh38
NC_000017.10:g.12896183C>G , CM000679.1:g.12896183C>G	GRCh37
NC_000017.9:g.12836908C>G	NCBI36
NG_015808.1:g.30199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2433G>C MANE Select	ENSP00000337445.4:p.Lys811Asn
ENST00000338034.8:c.2433G>C	ENSP00000337445.4:p.Lys811Asn
ENST00000395962.6:c.2376G>C	ENSP00000379291.1:p.Lys792Asn
ENST00000426905.7:c.2313G>C	ENSP00000405223.3:p.Lys771Asn
ENST00000465825.5:n.2320G>C
ENST00000480891.5:n.2262G>C
ENST00000484122.5:n.3263G>C
ENST00000487229.6:n.1979G>C
ENST00000584650.5:c.1832G>C
NM_001165962.1:c.2313G>C	NP_001159434.1:p.Lys771Asn
NM_018127.6:c.2433G>C	NP_060597.4:p.Lys811Asn
NM_173717.1:c.2430G>C	NP_776065.1:p.Lys810Asn
XM_024450850.1:c.2592G>C	XP_024306618.1:p.Lys864Asn
XM_024450851.1:c.2514G>C	XP_024306619.1:p.Lys838Asn
XM_024450852.1:c.2511G>C	XP_024306620.1:p.Lys837Asn
XM_024450853.1:c.2508G>C	XP_024306621.1:p.Lys836Asn
XM_024450854.1:c.2472G>C	XP_024306622.1:p.Lys824Asn
XM_024450855.1:c.2391G>C	XP_024306623.1:p.Lys797Asn
XM_024450856.1:c.2310G>C	XP_024306624.1:p.Lys770Asn
XM_024450857.1:c.2310G>C	XP_024306625.1:p.Lys770Asn
XM_024450858.1:c.2229G>C	XP_024306626.1:p.Lys743Asn
XM_024450859.1:c.2226G>C	XP_024306627.1:p.Lys742Asn
XM_024450860.1:c.2151G>C	XP_024306628.1:p.Lys717Asn
XM_024450861.1:c.2151G>C	XP_024306629.1:p.Lys717Asn
XM_024450862.1:c.2148G>C	XP_024306630.1:p.Lys716Asn
NM_018127.7:c.2433G>C MANE Select	NP_060597.4:p.Lys811Asn
NM_001165962.2:c.2313G>C	NP_001159434.1:p.Lys771Asn
NM_173717.2:c.2430G>C	NP_776065.1:p.Lys810Asn