Canonical Allele Identifier: CA8400836

Gene: ELAC2

Linked Data

• dbSNP Id: rs753701032
• ExAC: 17:12896300 A / G
• gnomAD v2: 17-12896300-A-G
• MyVariant Identifiers: chr17:g.12896300A>G (hg19) ; chr17:g.12992983A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992983A>G , CM000679.2:g.12992983A>G	GRCh38
NC_000017.10:g.12896300A>G , CM000679.1:g.12896300A>G	GRCh37
NC_000017.9:g.12837025A>G	NCBI36
NG_015808.1:g.30082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2316T>C MANE Select	ENSP00000337445.4:p.Ala772=
ENST00000338034.8:c.2316T>C	ENSP00000337445.4:p.Ala772=
ENST00000395962.6:c.2259T>C	ENSP00000379291.1:p.Ala753=
ENST00000426905.7:c.2196T>C	ENSP00000405223.3:p.Ala732=
ENST00000465825.5:n.2203T>C
ENST00000480891.5:n.2145T>C
ENST00000484122.5:n.3146T>C
ENST00000487229.6:n.1862T>C
ENST00000584650.5:c.1715T>C
NM_001165962.1:c.2196T>C	NP_001159434.1:p.Ala732=
NM_018127.6:c.2316T>C	NP_060597.4:p.Ala772=
NM_173717.1:c.2313T>C	NP_776065.1:p.Ala771=
XM_024450850.1:c.2475T>C	XP_024306618.1:p.Ala825=
XM_024450851.1:c.2397T>C	XP_024306619.1:p.Ala799=
XM_024450852.1:c.2394T>C	XP_024306620.1:p.Ala798=
XM_024450853.1:c.2391T>C	XP_024306621.1:p.Ala797=
XM_024450854.1:c.2355T>C	XP_024306622.1:p.Ala785=
XM_024450855.1:c.2274T>C	XP_024306623.1:p.Ala758=
XM_024450856.1:c.2193T>C	XP_024306624.1:p.Ala731=
XM_024450857.1:c.2193T>C	XP_024306625.1:p.Ala731=
XM_024450858.1:c.2112T>C	XP_024306626.1:p.Ala704=
XM_024450859.1:c.2109T>C	XP_024306627.1:p.Ala703=
XM_024450860.1:c.2034T>C	XP_024306628.1:p.Ala678=
XM_024450861.1:c.2034T>C	XP_024306629.1:p.Ala678=
XM_024450862.1:c.2031T>C	XP_024306630.1:p.Ala677=
NM_018127.7:c.2316T>C MANE Select	NP_060597.4:p.Ala772=
NM_001165962.2:c.2196T>C	NP_001159434.1:p.Ala732=
NM_173717.2:c.2313T>C	NP_776065.1:p.Ala771=